2-219433683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433683
    reference: chr 2
allele count: 1
allele frequency: 1.030354235786263e-5
allele num: 97054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.6C>T
  hgvsp: ENST00000295701.5:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.6C>T
  hgvsp: ENST00000273064.6:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.30C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.6C>T
  hgvsp: ENST00000509807.2:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.6C>T
  hgvsp: ENST00000432877.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.6C>T
  hgvsp: ENST00000542068.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.6C>T
  hgvsp: ENST00000433439.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His2His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-219433690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433690
    reference: chr 2
allele count: 1
allele frequency: 9.857266777068055e-6
allele num: 101448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.13G>C
  hgvsp: ENSP00000415607.1:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.13G>C
  hgvsp: ENSP00000443687.1:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.37G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.13G>C
  hgvsp: ENSP00000295701.5:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.13G>C
  hgvsp: ENSP00000273064.6:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.13G>C
  hgvsp: ENSP00000441357.1:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.13G>C
  hgvsp: ENSP00000392394.1:p.Ala5Pro
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala5Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

2-219433709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433709
    reference: chr 2
allele count: 4
allele frequency: 3.717126661090977e-5
allele num: 107610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+8G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 0
hgvs: c.24+8G>A
num of homozygotes: 1
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

2-219433715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433715
    reference: chr 2
allele count: 393
allele frequency: 3.71273098288176e-3
allele num: 105852
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+14C>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 27386
  bin: 2.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 28249
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 14
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-219433715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433715
    reference: chr 2
allele count: 2
allele frequency: 1.889430525639572e-5
allele num: 105852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+14C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-219433716-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433716
    reference: chr 2
allele count: 3
allele frequency: 2.724152334598551e-5
allele num: 110126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+15C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+15C>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-219433717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433717
    reference: chr 2
allele count: 107
allele frequency: 9.6971234887894e-4
allele num: 110342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+16C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+16C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27923
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-219433736-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433736
    reference: chr 2
allele count: 9
allele frequency: 8.079429771800995e-5
allele num: 111394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+35T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+35T>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-219433742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433742
    reference: chr 2
allele count: 1
allele frequency: 8.976499524245525e-6
allele num: 111402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+41C>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-219433744-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433745
    reference: chr 2
allele count: 2
allele frequency: 1.794043774668102e-5
allele num: 111480
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+44dupA
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

2-219433747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433747
    reference: chr 2
allele count: 1
allele frequency: 8.964750600638291e-6
allele num: 111548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+46A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+46A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-219433748-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433748
    reference: chr 2
allele count: 3
allele frequency: 2.691210506485817e-5
allele num: 111474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+47C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+47C>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23077
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219433749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219433749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219433749
    reference: chr 2
allele count: 1
allele frequency: 8.970057946574335e-6
allele num: 111482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+48C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.48+48C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-219438685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438685
    reference: chr 2
allele count: 3
allele frequency: 4.188774085450991e-4
allele num: 7162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+4984A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+4984A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.25-33A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+4984A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+4984A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+4984A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.120-29A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-219438770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438770
    reference: chr 2
allele count: 1
allele frequency: 1.086720278200391e-4
allele num: 9202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.176G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5069G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5069G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5069G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5069G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.77G>A
  hgvsp: ENSP00000415607.1:p.Arg26His
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5069G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg26His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-219438796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438796
    reference: chr 2
allele count: 10
allele frequency: 1.114081996434938e-3
allele num: 8976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5095G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.202G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5095G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5095G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5095G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.103G>A
  hgvsp: ENSP00000415607.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5095G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Asp35Asn
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-219438804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438804
    reference: chr 2
allele count: 5
allele frequency: 5.780346820809249e-4
allele num: 8650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.210C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.111C>T
  hgvsp: ENST00000433439.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5103C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5103C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5103C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5103C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5103C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro37Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-219438817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438817
    reference: chr 2
allele count: 8317
allele frequency: 9.996394230769231e-1
allele num: 8320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5116T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5116T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.223T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5116T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5116T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.124T>C
  hgvsp: ENSP00000415607.1:p.Ter42ArgextTer33
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5116T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.5e0
  variant carriers: 948
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 1466
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 1358
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 2033
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.25e1
  variant carriers: 753
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.75e1
  variant carriers: 698
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 850
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.25e1
  variant carriers: 561
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 6.25e1
  variant carriers: 305
hgvs: p.Ter42ArgextTer33
num of homozygotes: 4157
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-219438819-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438819
    reference: chr 2
allele count: 1
allele frequency: 1.779359430604982e-4
allele num: 5620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.126A>C
  hgvsp: ENSP00000415607.1:p.Ter42CysextTer33
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5118A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5118A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.225A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5118A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5118A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5118A>C
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter42CysextTer33
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-219438839-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438839
    reference: chr 2
allele count: 4901
allele frequency: 9.981670061099797e-1
allele num: 4910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5138A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*20A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5138A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5138A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.245A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5138A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5138A>C
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 483
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 7.5e0
  variant carriers: 2612
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 1259
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.25e1
  variant carriers: 1912
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 1.75e1
  variant carriers: 911
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 6.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 1020
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 700
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.25e1
  variant carriers: 907
num of homozygotes: 2446
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-219438841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219438841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219438841
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 2434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.24+5140C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.24+5140C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.24+5140C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144580
  ensembl transcript: ENST00000489687
  gene symbol: RQCD1
  hgvsc: ENST00000489687.1:n.247C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.24+5140C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.24+5140C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-219445234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445234
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445234
    reference: chr 2
allele count: 5
allele frequency: 4.640888080343054e-5
allele num: 107738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-50T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-50T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-50T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-50T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-50T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-50T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-219445244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445244
    reference: chr 2
allele count: 4
allele frequency: 3.698019710445057e-5
allele num: 108166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-40T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-40T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-40T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-40T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-40T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-40T>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19537
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-219445245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445245
    reference: chr 2
allele count: 3
allele frequency: 2.77700638711469e-5
allele num: 108030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-39C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-39C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-39C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-39C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-39C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-39C>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-219445247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445247
    reference: chr 2
allele count: 1
allele frequency: 9.228327273398423e-6
allele num: 108362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-37A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-37A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-37A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-37A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-37A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-37A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-219445252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445252
    reference: chr 2
allele count: 1
allele frequency: 9.179196269574637e-6
allele num: 108942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-32A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-32A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-32A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-32A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-32A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-32A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
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genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 290
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-219445270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445270
    reference: chr 2
allele count: 1
allele frequency: 8.793064031092274e-6
allele num: 113726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.25-14G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.25-14G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.25-14G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.25-14G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.25-14G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*138-14G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-219445289-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445289
    reference: chr 2
allele count: 1
allele frequency: 8.426871608184177e-6
allele num: 118668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.30G>T
  hgvsp: ENST00000295701.5:c.30G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.30G>T
  hgvsp: ENST00000509807.2:c.30G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.30G>T
  hgvsp: ENST00000273064.6:c.30G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.30G>T
  hgvsp: ENST00000432877.1:c.30G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*143G>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.30G>T
  hgvsp: ENST00000542068.1:c.30G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val10Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-219445293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445293
    reference: chr 2
allele count: 2
allele frequency: 1.677570877369569e-5
allele num: 119220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.34A>G
  hgvsp: ENSP00000443687.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.34A>G
  hgvsp: ENSP00000273064.6:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.34A>G
  hgvsp: ENSP00000441357.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.34A>G
  hgvsp: ENSP00000392394.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.34A>G
  hgvsp: ENSP00000295701.5:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*147A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr12Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-219445298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445298
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445298
    reference: chr 2
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.39A>G
  hgvsp: ENST00000295701.5:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.39A>G
  hgvsp: ENST00000509807.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.39A>G
  hgvsp: ENST00000273064.6:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.39A>G
  hgvsp: ENST00000542068.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*152A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.39A>G
  hgvsp: ENST00000432877.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr13Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-219445308-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445308
    reference: chr 2
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*162G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.49G>C
  hgvsp: ENSP00000443687.1:p.Val17Leu
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.49G>C
  hgvsp: ENSP00000441357.1:p.Val17Leu
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.49G>C
  hgvsp: ENSP00000273064.6:p.Val17Leu
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.49G>C
  hgvsp: ENSP00000392394.1:p.Val17Leu
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.49G>C
  hgvsp: ENSP00000295701.5:p.Val17Leu
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39083
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val17Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

2-219445309-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445309
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*163T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.50T>G
  hgvsp: ENSP00000392394.1:p.Val17Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.50T>G
  hgvsp: ENSP00000273064.6:p.Val17Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.50T>G
  hgvsp: ENSP00000295701.5:p.Val17Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.50T>G
  hgvsp: ENSP00000441357.1:p.Val17Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.50T>G
  hgvsp: ENSP00000443687.1:p.Val17Gly
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val17Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-219445343-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445343
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445343
    reference: chr 2
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.84G>T
  hgvsp: ENSP00000441357.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.84G>T
  hgvsp: ENSP00000273064.6:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.84G>T
  hgvsp: ENSP00000392394.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*197G>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.84G>T
  hgvsp: ENSP00000295701.5:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.84G>T
  hgvsp: ENSP00000443687.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu28Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-219445350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445350
    reference: chr 2
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.91A>G
  hgvsp: ENSP00000295701.5:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.91A>G
  hgvsp: ENSP00000441357.1:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.91A>G
  hgvsp: ENSP00000273064.6:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.91A>G
  hgvsp: ENSP00000443687.1:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.91A>G
  hgvsp: ENSP00000392394.1:p.Ser31Gly
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*204A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser31Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-219445394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445394
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.135G>A
  hgvsp: ENST00000295701.5:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.135G>A
  hgvsp: ENST00000273064.6:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.135G>A
  hgvsp: ENST00000509807.2:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.135G>A
  hgvsp: ENST00000542068.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.135G>A
  hgvsp: ENST00000432877.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys45Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

2-219445416-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445416
    reference: chr 2
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.157G>T
  hgvsp: ENSP00000392394.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.157G>T
  hgvsp: ENSP00000273064.6:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*270G>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.157G>T
  hgvsp: ENSP00000443687.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.157G>T
  hgvsp: ENSP00000295701.5:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.157G>T
  hgvsp: ENSP00000441357.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala53Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-219445418-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445418
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.159A>C
  hgvsp: ENST00000509807.2:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.159A>C
  hgvsp: ENST00000295701.5:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.159A>C
  hgvsp: ENST00000273064.6:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*272A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.159A>C
  hgvsp: ENST00000542068.1:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.159A>C
  hgvsp: ENST00000432877.1:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala53Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-219445419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445419
    reference: chr 2
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.160C>T
  hgvsp: ENSP00000441357.1:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.160C>T
  hgvsp: ENSP00000295701.5:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.160C>T
  hgvsp: ENSP00000273064.6:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.160C>T
  hgvsp: ENSP00000392394.1:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.160C>T
  hgvsp: ENSP00000443687.1:p.Pro54Ser
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro54Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

2-219445424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445424
    reference: chr 2
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.165G>A
  hgvsp: ENSP00000273064.6:p.Met55Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.165G>A
  hgvsp: ENSP00000295701.5:p.Met55Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.165G>A
  hgvsp: ENSP00000443687.1:p.Met55Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000415607
  ensembl transcript: ENST00000433439
  gene symbol: RQCD1
  hgvsc: ENST00000433439.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.165G>A
  hgvsp: ENSP00000392394.1:p.Met55Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.165G>A
  hgvsp: ENSP00000441357.1:p.Met55Ile
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met55Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-219445479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445479
    reference: chr 2
allele count: 1
allele frequency: 8.408166010829718e-6
allele num: 118932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+16T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+16T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+16T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+16T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+16T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-219445483-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445483
    reference: chr 2
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+20T>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+20T>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+20T>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+20T>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+20T>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/2-219445487-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445487
    reference: chr 2
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+24A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+24A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+24A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+24A>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+24A>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-219445488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445488
    reference: chr 2
allele count: 1
allele frequency: 8.443378702421561e-6
allele num: 118436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+25G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+25G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+25G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+25G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+25G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-219445502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445502
    reference: chr 2
allele count: 1
allele frequency: 8.534170819963133e-6
allele num: 117176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+39A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+39A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+39A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+39A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+39A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
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genotype quality: GenotypeQuality
  all individuals: 31780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 983
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genotype quality: GenotypeQuality
  all individuals: 5184
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genotype quality: GenotypeQuality
  all individuals: 1182
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6352
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-219445507-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445507
    reference: chr 2
allele count: 1
allele frequency: 8.559298822240482e-6
allele num: 116832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+44A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+44A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+44A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+44A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+44A>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5183
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genotype quality: GenotypeQuality
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
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genotype quality: GenotypeQuality
  all individuals: 2232
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genotype quality: GenotypeQuality
  all individuals: 584
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genotype quality: GenotypeQuality
  all individuals: 1017
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genotype quality: GenotypeQuality
  all individuals: 298
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genotype quality: GenotypeQuality
  all individuals: 29778
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1522
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-219445510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445510
    reference: chr 2
allele count: 1
allele frequency: 8.581775741036335e-6
allele num: 116526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+47T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+47T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+47T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+47T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+47T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31090
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-219445511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445511
    reference: chr 2
allele count: 2
allele frequency: 1.716325689962927e-5
allele num: 116528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+48G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+48G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+48G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+48G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+48G>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 406
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genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 550
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genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-219445513-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445513
    reference: chr 2
allele count: 1
allele frequency: 8.60733344809778e-6
allele num: 116180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+50A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+50A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+50A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.204+50A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+50A>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 135
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1864
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2761
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-219445676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445676
    reference: chr 2
allele count: 2
allele frequency: 1.546072974644403e-4
allele num: 12936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+213C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+213C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+213C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+213C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.205-42C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 546
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 89
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 392
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 434
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-219445694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445694
    reference: chr 2
allele count: 3
allele frequency: 2.36929395040278e-4
allele num: 12662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.205-24A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+231A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+231A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+231A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+231A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-219445700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445700
    reference: chr 2
allele count: 7
allele frequency: 5.55643752976663e-4
allele num: 12598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.205-18C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+237C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+237C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+237C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+237C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-219445713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445713
    reference: chr 2
allele count: 1
allele frequency: 8.001280204832773e-5
allele num: 12498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+250C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+250C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+250C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+250C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.205-5C>T
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 7.5e0
  variant carriers: 0
hgvs: c.205-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

2-219445722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445722
    reference: chr 2
allele count: 3
allele frequency: 2.409638554216867e-4
allele num: 12450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+259T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+259T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.209T>C
  hgvsp: ENSP00000392394.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+259T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+259T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 519
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile70Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

2-219445757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445757
    reference: chr 2
allele count: 5
allele frequency: 4.036815759728726e-4
allele num: 12386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+294G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+294G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+294G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+294G>A
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-219445766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445766
    reference: chr 2
allele count: 1
allele frequency: 8.081461128171973e-5
allele num: 12374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+303T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+303T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+303T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+303T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
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genotype depth: GenotypeDepth
  all individuals: 44
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 489
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genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

2-219445780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219445780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219445780
    reference: chr 2
allele count: 1
allele frequency: 8.093234056328909e-5
allele num: 12356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.204+317A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.204+317A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*39A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.204+317A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.204+317A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 333
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 2690
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 479
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genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-219447648-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447648
    reference: chr 2
allele count: 22
allele frequency: 1.876780809063145e-4
allele num: 117222
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.205-46T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.205-46T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.205-46T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*97-46T>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.205-46T>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 502
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
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genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 587
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6240
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-219447661-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447661
    reference: chr 2
allele count: 1
allele frequency: 8.463100880162492e-6
allele num: 118160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*97-33C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.205-33C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.205-33C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.205-33C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.205-33C>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1197
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219447665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447665
    reference: chr 2
allele count: 11
allele frequency: 9.258791643519688e-5
allele num: 118806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.205-29T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.205-29T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.205-29T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*97-29T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.205-29T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-219447674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447674
    reference: chr 2
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.205-20T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*97-20T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.205-20T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.205-20T>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.205-20T>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-219447675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447675
    reference: chr 2
allele count: 3
allele frequency: 2.500166677778519e-5
allele num: 119992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.205-19G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.205-19G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*97-19G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.205-19G>C
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.205-19G>C
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7142
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-219447700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447700
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.211G>A
  hgvsp: ENSP00000273064.6:p.Val71Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.211G>A
  hgvsp: ENSP00000295701.5:p.Val71Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.211G>A
  hgvsp: ENSP00000443687.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.211G>A
  hgvsp: ENSP00000441357.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35300
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val71Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-219447710-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447710
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447710
    reference: chr 2
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.221A>T
  hgvsp: ENSP00000441357.1:p.Tyr74Phe
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*113A>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.221A>T
  hgvsp: ENSP00000443687.1:p.Tyr74Phe
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.221A>T
  hgvsp: ENSP00000295701.5:p.Tyr74Phe
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.221A>T
  hgvsp: ENSP00000273064.6:p.Tyr74Phe
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr74Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-219447712-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447712
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447712
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.223C>G
  hgvsp: ENSP00000295701.5:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.223C>G
  hgvsp: ENSP00000443687.1:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.223C>G
  hgvsp: ENSP00000273064.6:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*115C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.223C>G
  hgvsp: ENSP00000441357.1:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro75Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

2-219447714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447714
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*117A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.225A>G
  hgvsp: ENST00000509807.2:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.225A>G
  hgvsp: ENST00000542068.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.225A>G
  hgvsp: ENST00000295701.5:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.225A>G
  hgvsp: ENST00000273064.6:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro75Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-219447720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447720
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.231C>T
  hgvsp: ENST00000542068.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.231C>T
  hgvsp: ENST00000295701.5:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.231C>T
  hgvsp: ENST00000273064.6:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.231C>T
  hgvsp: ENST00000509807.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile77Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

2-219447722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447722
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.233A>G
  hgvsp: ENSP00000295701.5:p.Asn78Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.233A>G
  hgvsp: ENSP00000441357.1:p.Asn78Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*125A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.233A>G
  hgvsp: ENSP00000273064.6:p.Asn78Ser
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.233A>G
  hgvsp: ENSP00000443687.1:p.Asn78Ser
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn78Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-219447726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447726
    reference: chr 2
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.237A>G
  hgvsp: ENST00000542068.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.237A>G
  hgvsp: ENST00000295701.5:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.237A>G
  hgvsp: ENST00000509807.2:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.237A>G
  hgvsp: ENST00000273064.6:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25728
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro79Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-219447728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447728
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.239C>A
  hgvsp: ENSP00000441357.1:p.Pro80His
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*131C>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.239C>A
  hgvsp: ENSP00000273064.6:p.Pro80His
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.239C>A
  hgvsp: ENSP00000443687.1:p.Pro80His
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.239C>A
  hgvsp: ENSP00000295701.5:p.Pro80His
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35510
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro80His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-219447771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447771
    reference: chr 2
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*174G>A
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.282G>A
  hgvsp: ENST00000295701.5:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.282G>A
  hgvsp: ENST00000273064.6:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.282G>A
  hgvsp: ENST00000509807.2:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.282G>A
  hgvsp: ENST00000542068.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu94Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-219447783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447783
    reference: chr 2
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.294A>G
  hgvsp: ENST00000509807.2:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.294A>G
  hgvsp: ENST00000295701.5:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*186A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.294A>G
  hgvsp: ENST00000273064.6:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.294A>G
  hgvsp: ENST00000542068.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln98Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-219447807-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447807
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.318C>G
  hgvsp: ENST00000509807.2:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*210C>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.318C>G
  hgvsp: ENST00000273064.6:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.318C>G
  hgvsp: ENST00000295701.5:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.318C>G
  hgvsp: ENST00000542068.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: c.318C>G
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

2-219447812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219447812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219447812
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000273064
  ensembl transcript: ENST00000273064
  gene symbol: RQCD1
  hgvsc: ENST00000273064.6:c.320+3A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000295701
  ensembl transcript: ENST00000295701
  gene symbol: RQCD1
  hgvsc: ENST00000295701.5:c.320+3A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000443687
  ensembl transcript: ENST00000542068
  gene symbol: RQCD1
  hgvsc: ENST00000542068.1:c.320+3A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000392394
  ensembl transcript: ENST00000432877
  gene symbol: RQCD1
  hgvsc: ENST00000432877.1:c.*212+3A>G
  variant of: http://identifiers.org/hgnc/10445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144580
  ensembl protein: ENSP00000441357
  ensembl transcript: ENST00000509807
  gene symbol: RQCD1
  hgvsc: ENST00000509807.2:c.320+3A>G
  variant of: http://identifiers.org/hgnc/10445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
hgvs: c.320+3A>G
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29541
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.319261213720317e-4
allele num: 7580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.200034e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 1292
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.707807888382076e-5
allele num: 14908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.378e0

VQSLOD
type: SiteQuality
SIO_000300: -4.308e-1

BaseQRankSum
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SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.258813e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59528
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.600104004160167e-4
allele num: 15384
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e0

DP
type: SiteQuality
SIO_000300: 1.339148e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 3.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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variant carriers: 33

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 175

South Asian
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allele count: 1
allele frequency: 6.546216286986122e-5
allele num: 15276
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.190240031739734e-3
allele num: 10082
num of homozygotes: 0

African
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allele count: 114
allele frequency: 1.387536514118793e-2
allele num: 8216
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.67379679144385e-3
allele num: 748
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East Asian
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allele count: 13
allele frequency: 1.613303549267808e-3
allele num: 8058
num of homozygotes: 0

European (Non-Finnish)
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allele count: 233
allele frequency: 3.969741370497836e-3
allele num: 58694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 3.767266638760988e-3
allele num: 4778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e0

FS
type: SiteQuality
SIO_000300: 2.77159e2

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.402708e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

QD
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -3.615e2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.407503322315739e-5
allele num: 58694
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.402708e6

VQSLOD
type: SiteQuality
SIO_000300: -3.615e2

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 2.77159e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.344e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.283964401825884e-5
allele num: 60902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.128413450688332e-4
allele num: 8862
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8200
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.32358e2

DP
type: SiteQuality
SIO_000300: 1.394299e6

VQSLOD
type: SiteQuality
SIO_000300: -8.770999999999999e1

MQ
type: SiteQuality
SIO_000300: 5.859e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 2

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

Latino
type: Population
allele count: 2
allele frequency: 1.885014137606032e-4
allele num: 10610
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.80226570545829e-3
allele num: 15536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 1.262626262626263e-3
allele num: 60984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.1503e1

DP
type: SiteQuality
SIO_000300: 1.395993e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.755211663895639e-4
allele num: 15638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.394303e6

FS
type: SiteQuality
SIO_000300: 9.360000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61612
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.111358079573238e-4
allele num: 8998
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8280
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
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allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

Other
type: Population
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allele num: 786
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
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South Asian
type: Population
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allele frequency: 1.27959053103007e-4
allele num: 15630
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.20598166907863e-4
allele num: 8292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.051e0

QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.380592e6

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

GenotypeQuality
all individuals: 1857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5005
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.862079024991086e-5
allele num: 61702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.380871e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.782e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.472e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 544
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621744348220947e-5
allele num: 61662
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.381661e6

QD
type: SiteQuality
SIO_000300: 8.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.471e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 605
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 2.142857142857143e-2
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

DP
type: SiteQuality
SIO_000300: 8.1171e4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 2.121e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.773e1

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.579778830963665e-4
allele num: 6330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.558999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.917e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.278e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.04726e5

QD
type: SiteQuality
SIO_000300: 2.099e1

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 9

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.619695497246518e-3
allele num: 6174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.52e-2

FS
type: SiteQuality
SIO_000300: 3.758e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.022e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 9.0426e4

GenotypeQuality
all individuals: 615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 592
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 8.428860418071476e-4
allele num: 5932
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 8.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 8.4916e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 463

GenotypeQuality
all individuals: 573
bin: 5.25e1
variant carriers: 573

GenotypeQuality
all individuals: 323
bin: 1.25e1
variant carriers: 323

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 405

GenotypeQuality
all individuals: 608
bin: 7.5e0
variant carriers: 606

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 188

GenotypeQuality
all individuals: 60
bin: 7.25e1
variant carriers: 60

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 312

GenotypeQuality
all individuals: 188
bin: 6.75e1
variant carriers: 188

GenotypeQuality
all individuals: 64
bin: 7.75e1
variant carriers: 64

East Asian
type: Population
allele count: 130
allele frequency: 1.0e0
allele num: 130
num of homozygotes: 65

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

Latino
type: Population
allele count: 78
allele frequency: 1.0e0
allele num: 78
num of homozygotes: 39

European (Non-Finnish)
type: Population
allele count: 2168
allele frequency: 1.0e0
allele num: 2168
num of homozygotes: 1084

South Asian
type: Population
allele count: 5668
allele frequency: 9.99647266313933e-1
allele num: 5670
num of homozygotes: 2833

African
type: Population
allele count: 179
allele frequency: 9.944444444444445e-1
allele num: 180
num of homozygotes: 89

Other
type: Population
allele count: 94
allele frequency: 1.0e0
allele num: 94
num of homozygotes: 47

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 7.8794e4

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 3.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.666666666666667e-4
allele num: 3750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 5.8695e4

GenotypeQuality
all individuals: 91
bin: 6.25e1
variant carriers: 91

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 524
bin: 2.75e1
variant carriers: 524

GenotypeQuality
all individuals: 785
bin: 7.5e0
variant carriers: 778

GenotypeQuality
all individuals: 456
bin: 1.25e1
variant carriers: 456

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 18

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 302

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

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 207

African
type: Population
allele count: 128
allele frequency: 9.552238805970149e-1
allele num: 134
num of homozygotes: 61

Other
type: Population
allele count: 52
allele frequency: 1.0e0
allele num: 52
num of homozygotes: 26

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

Latino
type: Population
allele count: 36
allele frequency: 1.0e0
allele num: 36
num of homozygotes: 18

East Asian
type: Population
allele count: 126
allele frequency: 1.0e0
allele num: 126
num of homozygotes: 63

South Asian
type: Population
allele count: 3257
allele frequency: 9.99079754601227e-1
allele num: 3260
num of homozygotes: 1627

European (Non-Finnish)
type: Population
allele count: 1300
allele frequency: 1.0e0
allele num: 1300
num of homozygotes: 650

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.819e-1

FS
type: SiteQuality
SIO_000300: 6.3e0

DP
type: SiteQuality
SIO_000300: 5.6691e4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 2.965e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
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GenotypeQuality
all individuals: 2278
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variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 1.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

DP
type: SiteQuality
SIO_000300: 4.5368e4

GenotypeQuality
all individuals: 1361
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5379
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5101
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5997
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.838235294117647e-4
allele num: 10880
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.755326965466569e-4
allele num: 10888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60816
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.24199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 3.115e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 4905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5113
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.644979041370512e-4
allele num: 10974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.75e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.288545e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5113
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2090
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.696402168555939e-4
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.496e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.296507e6

QD
type: SiteQuality
SIO_000300: 9.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 4692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4651
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636125654450262e-5
allele num: 61120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.312223e6

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: -8.9e-1

GenotypeQuality
all individuals: 1176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.917424647761727e-5
allele num: 11214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 1.355505e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 1.889e1

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6054
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566465114821893e-5
allele num: 63838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.483568e6

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 7.049e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.578e0

GenotypeQuality
all individuals: 37738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 1.233e1

FS
type: SiteQuality
SIO_000300: 3.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.526e0

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: -5.416e-1

DP
type: SiteQuality
SIO_000300: 1.551636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5180
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030670384289005e-5
allele num: 65992
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.558917e6

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

FS
type: SiteQuality
SIO_000300: 2.886e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeQuality
all individuals: 2802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38434
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 1858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 2.514e0

QD
type: SiteQuality
SIO_000300: 8.17e0

DP
type: SiteQuality
SIO_000300: 1.566236e6

VQSLOD
type: SiteQuality
SIO_000300: -1.578e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
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variant carriers: 0

GenotypeQuality
all individuals: 6891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009238361770636e-5
allele num: 66462
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 1.57845e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

FS
type: SiteQuality
SIO_000300: 2.995e0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.579354e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.498830304120928e-5
allele num: 66684
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.04e-2

DP
type: SiteQuality
SIO_000300: 1.588975e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.847e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.589434e6

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.153e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.198e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 6.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.003e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.631e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.304e1

DP
type: SiteQuality
SIO_000300: 1.59032e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.589546e6

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 1.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.779e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.589453e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.24e0

QD
type: SiteQuality
SIO_000300: 1.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.994e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -1.817e0

FS
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 1.589252e6

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 9.919e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 14866
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65992
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

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

South Asian
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allele frequency: 0.0e0
allele num: 14722
num of homozygotes: 0

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

African
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
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MQRankSum
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QD
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FS
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.146e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.529901e6

VQSLOD
type: SiteQuality
SIO_000300: -1.038e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 9.31e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.897503103876396e-5
allele num: 14498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.528907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.231e0

FS
type: SiteQuality
SIO_000300: 5.086e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 9.33e0

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 502
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65548
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.395e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.599e1

FS
type: SiteQuality
SIO_000300: 3.558e0

DP
type: SiteQuality
SIO_000300: 1.509559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: -1.964e0

FS
type: SiteQuality
SIO_000300: 1.603e0

DP
type: SiteQuality
SIO_000300: 1.505758e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 2.211e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2423
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529894131326112e-5
allele num: 65364
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.267e0

DP
type: SiteQuality
SIO_000300: 1.506265e6

GenotypeQuality
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1484
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GenotypeQuality
all individuals: 755
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13256
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 3.516e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
type: SiteQuality
SIO_000300: 1.506818e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24572
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532097441397273e-5
allele num: 65270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13054
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

QD
type: SiteQuality
SIO_000300: 1.287e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.515222e6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 2.616431187859759e-4
allele num: 7644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.64673e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
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Latino
type: Population
allele count: 1
allele frequency: 4.761904761904762e-3
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.322259136212625e-3
allele num: 602
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Other
type: Population
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allele frequency: 0.0e0
allele num: 132
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.824817518248175e-3
allele num: 3836
num of homozygotes: 0

African
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 134
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 210
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DP
type: SiteQuality
SIO_000300: 2.49073e5

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.312335958005249e-4
allele num: 7620
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African
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allele frequency: 0.0e0
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Other
type: Population
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.55e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

African
type: Population
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num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.937007874015748e-4
allele num: 7620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.44617e5

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.95e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.802e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

QD
type: SiteQuality
SIO_000300: 7.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 9.25e1
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GenotypeQuality
all individuals: 457
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 9.900990099009901e-3
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.558718861209964e-3
allele num: 562
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.009e-1

FS
type: SiteQuality
SIO_000300: 3.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

DP
type: SiteQuality
SIO_000300: 2.41005e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

GenotypeQuality
all individuals: 526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.726281352235551e-4
allele num: 3668
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.154e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 2.40386e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.976e-1

DP
type: SiteQuality
SIO_000300: 2.40147e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.251877816725087e-4
allele num: 15976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.860926741517276e-4
allele num: 64484
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.232146532208273e-4
allele num: 9718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.739676e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.859e1

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.973e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.826606e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 11

GenotypeQuality
all individuals: 2181
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.683656289221538e-4
allele num: 65334
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 1.85209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

GenotypeQuality
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 956
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 150
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GenotypeQuality
all individuals: 7140
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516622179082747e-5
allele num: 65936
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.434e0

QD
type: SiteQuality
SIO_000300: 1.461e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

DP
type: SiteQuality
SIO_000300: 1.883565e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34112
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.547659471258792e-5
allele num: 65968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.386e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.724e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3205
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GenotypeQuality
all individuals: 7150
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.839e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.806e1

DP
type: SiteQuality
SIO_000300: 1.906287e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 1214
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GenotypeQuality
all individuals: 7150
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66708
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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FS
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SIO_000300: 3.14e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10392
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66724
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
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BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
allele num: 908
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Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
type: SiteQuality
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QD
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MQRankSum
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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South Asian
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Other
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East Asian
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allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
allele num: 908
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East Asian
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African
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allele frequency: 0.0e0
allele num: 10402
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Latino
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allele frequency: 0.0e0
allele num: 11576
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

MQRankSum
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VQSLOD
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QD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.009e0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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allele num: 908
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Latino
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South Asian
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allele num: 16512
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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European (Non-Finnish)
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allele frequency: 4.495729057395475e-5
allele num: 66730
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East Asian
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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Other
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East Asian
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allele count: 0
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allele num: 8654
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66724
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African
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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