12-31255933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255933
    reference: chr 12
allele count: 7
allele frequency: 5.779010633379565e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.170G>T
  hgvsp: ENSP00000443750.1:p.Met57Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.233G>T
  hgvsp: ENSP00000441015.1:p.Met78Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2286G>T
  hgvsp: ENSP00000309965.5:p.Met762Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2436G>T
  hgvsp: ENSP00000440402.1:p.Met812Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2358G>T
  hgvsp: ENSP00000228264.6:p.Met786Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1757G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2436G>T
  hgvsp: ENSP00000443426.1:p.Met812Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1780G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.263G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3018G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*94G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2436G>T
  hgvsp: ENSP00000384703.2:p.Met812Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-808G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met812Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/12-31255935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255935
    reference: chr 12
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1759C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*96C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2438C>A
  hgvsp: ENSP00000440402.1:p.Ala813Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.172C>A
  hgvsp: ENSP00000443750.1:p.Ala58Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2438C>A
  hgvsp: ENSP00000443426.1:p.Ala813Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2438C>A
  hgvsp: ENSP00000384703.2:p.Ala813Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.265C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1782C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3020C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.235C>A
  hgvsp: ENSP00000441015.1:p.Ala79Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2288C>A
  hgvsp: ENSP00000309965.5:p.Ala763Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-806C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2360C>A
  hgvsp: ENSP00000228264.6:p.Ala787Asp
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala813Asp
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-31255943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255943
    reference: chr 12
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2368G>T
  hgvsp: ENSP00000228264.6:p.Asp790Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*104G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.243G>T
  hgvsp: ENSP00000441015.1:p.Asp82Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.273G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1767G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2446G>T
  hgvsp: ENSP00000443426.1:p.Asp816Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1790G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-798G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2446G>T
  hgvsp: ENSP00000384703.2:p.Asp816Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.180G>T
  hgvsp: ENSP00000443750.1:p.Asp61Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2446G>T
  hgvsp: ENSP00000440402.1:p.Asp816Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2296G>T
  hgvsp: ENSP00000309965.5:p.Asp766Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3028G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp816Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-31255950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255950
    reference: chr 12
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.187C>A
  hgvsp: ENSP00000443750.1:p.Thr63Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.250C>A
  hgvsp: ENSP00000441015.1:p.Thr84Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2375C>A
  hgvsp: ENSP00000228264.6:p.Thr792Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2453C>A
  hgvsp: ENSP00000384703.2:p.Thr818Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2453C>A
  hgvsp: ENSP00000443426.1:p.Thr818Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2453C>A
  hgvsp: ENSP00000440402.1:p.Thr818Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-791C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2303C>A
  hgvsp: ENSP00000309965.5:p.Thr768Asn
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.280C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*111C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1797C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1774C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3035C>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr818Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-31255954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255954
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255954
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254C>T
  hgvsp: ENST00000539702.1:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307C>T
  hgvsp: ENST00000350437.4:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457C>T
  hgvsp: ENST00000545668.1:c.2457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457C>T
  hgvsp: ENST00000407793.2:c.2457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191C>T
  hgvsp: ENST00000545115.1:c.191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457C>T
  hgvsp: ENST00000542838.1:c.2457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-787C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.284C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379C>T
  hgvsp: ENST00000228264.6:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2457C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-31255955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255955
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255955
    reference: chr 12
allele count: 3
allele frequency: 2.479256884069948e-5
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.285G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+1G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-786G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+1G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2457+1G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-31255965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255965
    reference: chr 12
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.295C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-776C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+11C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+11C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-31255965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255965
    reference: chr 12
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.295C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-776C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+11C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+11C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-31255969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255969
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255969
    reference: chr 12
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.299T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-772T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+15T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+15T>C
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

12-31255977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255977
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.307A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-764A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+23A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+23A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

12-31255982-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255982
    reference: chr 12
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.312G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-759G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+28G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+28G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-31255983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255983
    reference: chr 12
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-758A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.313A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+29A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+29A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

12-31255985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255985
    reference: chr 12
allele count: 9
allele frequency: 7.457986675063808e-5
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.315A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-756A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+31A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-31255987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255987
    reference: chr 12
allele count: 3
allele frequency: 2.486696175461282e-5
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.317G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-754G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+33G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+33G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-31255987-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255987
    reference: chr 12
allele count: 6
allele frequency: 4.973392350922564e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-754G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.317G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+33G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+33G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-31255988-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255988
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255988
    reference: chr 12
allele count: 17
allele frequency: 1.409151193633952e-4
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2457+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*115+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2379+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2457+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.254+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2457+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2307+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1801+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  hgvsc: ENST00000537136.1:n.318A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3039+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1778+34A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-753A>C
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

12-31255996-CAGTGGGTGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31255996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31255986
    reference: chr 12
allele count: 54
allele frequency: 4.489001945234176e-4
allele num: 120294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000537136
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16519
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CAGTGGGTGGG
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

12-31256202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256202
    reference: chr 12
allele count: 1
allele frequency: 1.268552581504503e-5
allele num: 78830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-539G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-54G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-54G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-54G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+248G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-49G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-49G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-31256206-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256206
    reference: chr 12
allele count: 1
allele frequency: 1.261925193074555e-5
allele num: 79244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-50T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-535T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+252T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-45T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-50T>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-50T>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18070
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-31256215-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256215
    reference: chr 12
allele count: 1
allele frequency: 1.241064336775218e-5
allele num: 80576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+261G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-41G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-526G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-41G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-36G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-41G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-36G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-31256216-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256216
    reference: chr 12
allele count: 3
allele frequency: 3.713790542213419e-5
allele num: 80780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+262G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-40G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-40G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-40G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-35G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-525G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-31256219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256219
    reference: chr 12
allele count: 55151
allele frequency: 5.597722382363688e-1
allele num: 98524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-37C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-37C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-522C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-37C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+265C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.25e1
  variant carriers: 6803
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 9.75e1
  variant carriers: 4746
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 15035
  bin: 1.25e1
  variant carriers: 11070
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.75e1
  variant carriers: 2666
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 1.75e1
  variant carriers: 12305
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 7.5e0
  variant carriers: 4047
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 185
genotype quality: GenotypeQuality
num of homozygotes: 15060
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-31256220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256220
    reference: chr 12
allele count: 55614
allele frequency: 5.605684910795282e-1
allele num: 99210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-36A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-36A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+266A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-521A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-36A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.25e1
  variant carriers: 7192
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 7.5e0
  variant carriers: 3739
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 1.75e1
  variant carriers: 12313
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 2905
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 1.25e1
  variant carriers: 10639
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 947
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
num of homozygotes: 15181
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-31256224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256224
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256224
    reference: chr 12
allele count: 1
allele frequency: 1.025683104947895e-5
allele num: 97496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.191+270C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-32C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-27C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-517C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-32C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-31256238-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256238
    reference: chr 12
allele count: 1
allele frequency: 1.010897474778108e-5
allele num: 98922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-503C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-18C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-18C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-13C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-18C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-273C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-13C>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-31256246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256246
    reference: chr 12
allele count: 2
allele frequency: 2.023513223658917e-5
allele num: 98838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2458-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2380-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.255-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-265C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1802-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2458-10C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2308-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2458-10C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1779-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3040-5C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-495C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*116-10C>A
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21817
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2380-5C>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-31256258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256258
    reference: chr 12
allele count: 2
allele frequency: 2.044822509406184e-5
allele num: 97808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2315C>T
  hgvsp: ENSP00000309965.5:p.Ala772Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2387C>T
  hgvsp: ENSP00000228264.6:p.Ala796Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.262C>T
  hgvsp: ENSP00000441015.1:p.Ala88Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2460C>T
  hgvsp: ENST00000545668.1:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2460C>T
  hgvsp: ENST00000407793.2:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3047C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-253C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-483C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2465C>T
  hgvsp: ENSP00000443426.1:p.Ala822Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1786C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1809C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala772Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-31256259-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256259
    reference: chr 12
allele count: 17
allele frequency: 1.737211060925014e-4
allele num: 97858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.263C>G
  hgvsp: ENST00000539702.1:c.263C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2466C>G
  hgvsp: ENST00000542838.1:c.2466C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2316C>G
  hgvsp: ENST00000350437.4:c.2316C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1787C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2461C>G
  hgvsp: ENSP00000440402.1:p.Pro821Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2461C>G
  hgvsp: ENSP00000384703.2:p.Pro821Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2388C>G
  hgvsp: ENST00000228264.6:c.2388C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1810C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-252C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3048C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-482C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21636
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro821Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

12-31256259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256259
    reference: chr 12
allele count: 1
allele frequency: 1.021888859367655e-5
allele num: 97858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2461C>T
  hgvsp: ENSP00000384703.2:p.Pro821Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2466C>T
  hgvsp: ENST00000542838.1:c.2466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2316C>T
  hgvsp: ENST00000350437.4:c.2316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2461C>T
  hgvsp: ENSP00000440402.1:p.Pro821Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.263C>T
  hgvsp: ENST00000539702.1:c.263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2388C>T
  hgvsp: ENST00000228264.6:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1787C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3048C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-482C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1810C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-252C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro821Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-31256262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256262
    reference: chr 12
allele count: 5
allele frequency: 5.155064335202903e-5
allele num: 96992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-479C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1813C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3051C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-249C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.266C>T
  hgvsp: ENST00000539702.1:c.266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2464C>T
  hgvsp: ENSP00000384703.2:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1790C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2469C>T
  hgvsp: ENST00000542838.1:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2464C>T
  hgvsp: ENSP00000440402.1:p.Arg822Trp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2319C>T
  hgvsp: ENST00000350437.4:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2391C>T
  hgvsp: ENST00000228264.6:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20736
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg822Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-31256263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256263
    reference: chr 12
allele count: 1
allele frequency: 1.028235342505193e-5
allele num: 97254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-478G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2392G>A
  hgvsp: ENSP00000228264.6:p.Gly798Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.267G>A
  hgvsp: ENSP00000441015.1:p.Gly90Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2320G>A
  hgvsp: ENSP00000309965.5:p.Gly774Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1814G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2465G>A
  hgvsp: ENSP00000384703.2:p.Arg822Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1791G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2470G>A
  hgvsp: ENSP00000443426.1:p.Gly824Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3052G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2465G>A
  hgvsp: ENSP00000440402.1:p.Arg822Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-248G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*123G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg822Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-31256265-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256265
    reference: chr 12
allele count: 1
allele frequency: 1.04973651613445e-5
allele num: 95262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1793C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2322C>A
  hgvsp: ENST00000350437.4:c.2322C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2467C>A
  hgvsp: ENSP00000440402.1:p.Pro823Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-476C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-246C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2394C>A
  hgvsp: ENST00000228264.6:c.2394C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1816C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2467C>A
  hgvsp: ENSP00000384703.2:p.Pro823Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2472C>A
  hgvsp: ENST00000542838.1:c.2472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3054C>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.269C>A
  hgvsp: ENST00000539702.1:c.269C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*125C>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12491
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro823Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-31256267-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256267
    reference: chr 12
allele count: 18
allele frequency: 1.884856227355547e-4
allele num: 95498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.271A>G
  hgvsp: ENSP00000441015.1:p.Gln91Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1818A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-244A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2469A>G
  hgvsp: ENST00000545668.1:c.2469A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2396A>G
  hgvsp: ENSP00000228264.6:p.Gln799Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2474A>G
  hgvsp: ENSP00000443426.1:p.Gln825Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2469A>G
  hgvsp: ENST00000407793.2:c.2469A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3056A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1795A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-474A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*127A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2324A>G
  hgvsp: ENSP00000309965.5:p.Gln775Arg
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln775Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-31256274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256274
    reference: chr 12
allele count: 11
allele frequency: 1.16639097425457e-4
allele num: 94308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2481C>G
  hgvsp: ENST00000542838.1:c.2481C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2476C>G
  hgvsp: ENSP00000440402.1:p.Pro826Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2331C>G
  hgvsp: ENST00000350437.4:c.2331C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-467C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.278C>G
  hgvsp: ENST00000539702.1:c.278C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2403C>G
  hgvsp: ENST00000228264.6:c.2403C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1825C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1802C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2476C>G
  hgvsp: ENSP00000384703.2:p.Pro826Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-237C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3063C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16778
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro826Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-31256275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256275
    reference: chr 12
allele count: 1
allele frequency: 1.067326986295522e-5
allele num: 93692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2404C>T
  hgvsp: ENSP00000228264.6:p.Pro802Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-466C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3064C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2482C>T
  hgvsp: ENSP00000443426.1:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.279C>T
  hgvsp: ENSP00000441015.1:p.Pro94Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1826C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1803C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2477C>T
  hgvsp: ENSP00000384703.2:p.Pro826Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2477C>T
  hgvsp: ENSP00000440402.1:p.Pro826Leu
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2332C>T
  hgvsp: ENSP00000309965.5:p.Pro778Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-236C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro826Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-31256276-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256276
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 93734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2333C>G
  hgvsp: ENSP00000309965.5:p.Pro778Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2483C>G
  hgvsp: ENSP00000443426.1:p.Pro828Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1804C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-465C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*136C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2478C>G
  hgvsp: ENST00000545668.1:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1827C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3065C>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.280C>G
  hgvsp: ENSP00000441015.1:p.Pro94Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2405C>G
  hgvsp: ENSP00000228264.6:p.Pro802Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2478C>G
  hgvsp: ENST00000407793.2:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-235C>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro778Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

12-31256280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256280
    reference: chr 12
allele count: 5
allele frequency: 5.423111130393284e-5
allele num: 92198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2337G>C
  hgvsp: ENST00000350437.4:c.2337G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2482G>C
  hgvsp: ENSP00000384703.2:p.Glu828Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2487G>C
  hgvsp: ENST00000542838.1:c.2487G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-231G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2409G>C
  hgvsp: ENST00000228264.6:c.2409G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1808G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.284G>C
  hgvsp: ENST00000539702.1:c.284G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1831G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-461G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2482G>C
  hgvsp: ENSP00000440402.1:p.Glu828Gln
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*140G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3069G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Glu828Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-31256283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256283
    reference: chr 12
allele count: 1
allele frequency: 1.093828618931986e-5
allele num: 91422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2412G>A
  hgvsp: ENST00000228264.6:c.2412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-458G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.287G>A
  hgvsp: ENST00000539702.1:c.287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1811G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2490G>A
  hgvsp: ENST00000542838.1:c.2490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2485G>A
  hgvsp: ENSP00000440402.1:p.Gly829Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2485G>A
  hgvsp: ENSP00000384703.2:p.Gly829Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3072G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2340G>A
  hgvsp: ENST00000350437.4:c.2340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-228G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1834G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly829Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-31256284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256284
    reference: chr 12
allele count: 2
allele frequency: 2.189046013747209e-5
allele num: 91364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2341G>C
  hgvsp: ENSP00000309965.5:p.Ala781Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2486G>C
  hgvsp: ENSP00000440402.1:p.Gly829Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3073G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2413G>C
  hgvsp: ENSP00000228264.6:p.Ala805Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1835G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.288G>C
  hgvsp: ENSP00000441015.1:p.Ala97Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2486G>C
  hgvsp: ENSP00000384703.2:p.Gly829Ala
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*144G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-457G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2491G>C
  hgvsp: ENSP00000443426.1:p.Ala831Pro
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1812G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-227G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly829Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-31256292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256292
    reference: chr 12
allele count: 1
allele frequency: 1.124783479180258e-5
allele num: 88906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3081G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2494G>A
  hgvsp: ENSP00000384703.2:p.Gly832Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.296G>A
  hgvsp: ENST00000539702.1:c.296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2494G>A
  hgvsp: ENSP00000440402.1:p.Gly832Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-449G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2499G>A
  hgvsp: ENST00000542838.1:c.2499G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-219G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2421G>A
  hgvsp: ENST00000228264.6:c.2421G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2349G>A
  hgvsp: ENST00000350437.4:c.2349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1820G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1843G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly832Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-31256305-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256305
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256305
    reference: chr 12
allele count: 6
allele frequency: 7.13148073311622e-5
allele num: 84134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-206A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-436A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2507A>G
  hgvsp: ENSP00000384703.2:p.His836Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2362A>G
  hgvsp: ENSP00000309965.5:p.Met788Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2507A>G
  hgvsp: ENSP00000440402.1:p.His836Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2512A>G
  hgvsp: ENSP00000443426.1:p.Met838Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2434A>G
  hgvsp: ENSP00000228264.6:p.Met812Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.309A>G
  hgvsp: ENSP00000441015.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3094A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1856A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1833A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21459
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His836Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-31256306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256306
    reference: chr 12
allele count: 138
allele frequency: 1.644423260247855e-3
allele num: 83920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.310T>C
  hgvsp: ENSP00000441015.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-435T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2508T>C
  hgvsp: ENST00000407793.2:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1857T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2435T>C
  hgvsp: ENSP00000228264.6:p.Met812Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3095T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2363T>C
  hgvsp: ENSP00000309965.5:p.Met788Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2508T>C
  hgvsp: ENST00000545668.1:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*166T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2513T>C
  hgvsp: ENSP00000443426.1:p.Met838Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1834T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-205T>C
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21391
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Met788Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-31256309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256309
    reference: chr 12
allele count: 1
allele frequency: 1.204412969118852e-5
allele num: 83028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-432A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1837A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*169A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.313A>C
  hgvsp: ENSP00000441015.1:p.Lys105Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2511A>C
  hgvsp: ENSP00000440402.1:p.Glu837Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2516A>C
  hgvsp: ENSP00000443426.1:p.Lys839Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2438A>C
  hgvsp: ENSP00000228264.6:p.Lys813Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2366A>C
  hgvsp: ENSP00000309965.5:p.Lys789Thr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2511A>C
  hgvsp: ENSP00000384703.2:p.Glu837Asp
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-202A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3098A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1860A>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu837Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-31256309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256309
    reference: chr 12
allele count: 1
allele frequency: 1.204412969118852e-5
allele num: 83028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3098A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1860A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-432A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2366A>G
  hgvsp: ENSP00000309965.5:p.Lys789Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.313A>G
  hgvsp: ENSP00000441015.1:p.Lys105Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*169A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2516A>G
  hgvsp: ENSP00000443426.1:p.Lys839Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2511A>G
  hgvsp: ENST00000407793.2:c.2511A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2511A>G
  hgvsp: ENST00000545668.1:c.2511A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2438A>G
  hgvsp: ENSP00000228264.6:p.Lys813Arg
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1837A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-202A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys789Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-31256314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256314
    reference: chr 12
allele count: 6
allele frequency: 7.360879379723231e-5
allele num: 81512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1865G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2443G>A
  hgvsp: ENSP00000228264.6:p.Val815Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.318G>A
  hgvsp: ENSP00000441015.1:p.Val107Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2371G>A
  hgvsp: ENSP00000309965.5:p.Val791Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2516G>A
  hgvsp: ENSP00000440402.1:p.Arg839His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-427G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2521G>A
  hgvsp: ENSP00000443426.1:p.Val841Ile
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2516G>A
  hgvsp: ENSP00000384703.2:p.Arg839His
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1842G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-197G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3103G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*174G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20999
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg839His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-31256318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256318
    reference: chr 12
allele count: 1
allele frequency: 1.223540927444023e-5
allele num: 81730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-193A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2525A>G
  hgvsp: ENSP00000443426.1:p.Asn842Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-423A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.322A>G
  hgvsp: ENSP00000441015.1:p.Asn108Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3107A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2447A>G
  hgvsp: ENSP00000228264.6:p.Asn816Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1846A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2520A>G
  hgvsp: ENST00000407793.2:c.2520A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2520A>G
  hgvsp: ENST00000545668.1:c.2520A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1869A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2375A>G
  hgvsp: ENSP00000309965.5:p.Asn792Ser
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*178A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn792Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-31256324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256324
    reference: chr 12
allele count: 5
allele frequency: 6.149456388055296e-5
allele num: 81308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1875C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3113C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1852C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2453C>T
  hgvsp: ENSP00000228264.6:p.Ser818Phe
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2531C>T
  hgvsp: ENSP00000443426.1:p.Ser844Phe
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-417C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.328C>T
  hgvsp: ENSP00000441015.1:p.Ser110Phe
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-187C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*184C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2526C>T
  hgvsp: ENST00000407793.2:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2381C>T
  hgvsp: ENSP00000309965.5:p.Ser794Phe
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2526C>T
  hgvsp: ENST00000545668.1:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20779
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser794Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

12-31256325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256325
    reference: chr 12
allele count: 1
allele frequency: 1.234506937928991e-5
allele num: 81004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.329C>T
  hgvsp: ENST00000539702.1:c.329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2527C>T
  hgvsp: ENSP00000384703.2:p.His843Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2532C>T
  hgvsp: ENST00000542838.1:c.2532C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-186C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1853C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2527C>T
  hgvsp: ENSP00000440402.1:p.His843Tyr
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2454C>T
  hgvsp: ENST00000228264.6:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-416C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1876C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3114C>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2382C>T
  hgvsp: ENST00000350437.4:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20657
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His843Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

12-31256339-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256339
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256339
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 79430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+10G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-172G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-402G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17191
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

12-31256342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256342
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256342
    reference: chr 12
allele count: 49730
allele frequency: 5.727019370292743e-1
allele num: 86834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-399G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+13G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-169G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+13G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 19663
  bin: 1.25e1
  variant carriers: 14970
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 1018
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 7.5e0
  variant carriers: 7330
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.5e0
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.25e1
  variant carriers: 3610
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 9.75e1
  variant carriers: 3117
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 399
genotype quality: GenotypeQuality
num of homozygotes: 14112
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-31256348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256348
    reference: chr 12
allele count: 21
allele frequency: 2.536538229254741e-4
allele num: 82790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-393A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-163A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+19A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+19A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20251
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-31256360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256360
    reference: chr 12
allele count: 2
allele frequency: 2.405060246759181e-5
allele num: 83158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-381A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+31A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-151A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-31256361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256361
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256361
    reference: chr 12
allele count: 1
allele frequency: 1.203746057731661e-5
allele num: 83074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-380G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+32G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-150G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+32G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

12-31256365-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256365
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 83294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-146G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+36G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-376G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+36G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-31256368-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256368
    reference: chr 12
allele count: 51041
allele frequency: 5.632172492937854e-1
allele num: 90624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-373G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+39G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-143G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+39G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.25e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.75e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 7.5e0
  variant carriers: 6347
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 9.75e1
  variant carriers: 2595
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 2.25e1
  variant carriers: 4379
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 1.75e1
  variant carriers: 10892
genotype depth: GenotypeDepth
  all individuals: 18797
  bin: 1.25e1
  variant carriers: 14195
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.5e0
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 1422
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 194
genotype quality: GenotypeQuality
num of homozygotes: 14219
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-31256374-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256374
    reference: chr 12
allele count: 1
allele frequency: 1.105656538852771e-5
allele num: 90444
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2531+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1857+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3118+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-367G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2458+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2386+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1880+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2536+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-137G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*189+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2531+45G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.333+45G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-31256461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256461
    reference: chr 12
allele count: 2
allele frequency: 1.681944327642755e-5
allele num: 118910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-280T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-50T>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-50T>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-31256461-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256460
    reference: chr 12
allele count: 1
allele frequency: 8.409721638213775e-6
allele num: 118910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-279delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-49delA
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-49delA
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-31256462-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256463
    reference: chr 12
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-273dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-43dupG
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-43dupG
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-31256462-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256462
    reference: chr 12
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-279A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-49A>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-49A>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

12-31256462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256462
    reference: chr 12
allele count: 8
allele frequency: 6.738203931741994e-5
allele num: 118726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-279A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-49A>G
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-49A>G
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-31256464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
allele count: 28
allele frequency: 2.356426311182926e-4
allele num: 118824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-277G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-47G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-47G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-31256464-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
allele count: 34
allele frequency: 2.86137480643641e-4
allele num: 118824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-277G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-47G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-47G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-31256464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256464
    reference: chr 12
allele count: 591
allele frequency: 4.973742678246819e-3
allele num: 118824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-277G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-47G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-47G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 2.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 15
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-31256465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
allele count: 2
allele frequency: 1.683473342199626e-5
allele num: 118802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-276G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-46G>A
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-46G>A
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-31256465-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
allele count: 4
allele frequency: 3.366946684399253e-5
allele num: 118802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-46G>C
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-276G>C
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-31256465-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 31256465
    reference: chr 12
allele count: 2
allele frequency: 1.683473342199626e-5
allele num: 118802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443750
  ensembl transcript: ENST00000545115
  gene symbol: DDX11
  hgvsc: ENST00000545115.1:c.192-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000406799
  ensembl transcript: ENST00000435753
  gene symbol: DDX11
  hgvsc: ENST00000435753.2:c.*1881-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl transcript: ENST00000536265
  gene symbol: DDX11
  hgvsc: ENST00000536265.1:n.3119-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445568
  ensembl transcript: ENST00000539049
  gene symbol: DDX11
  hgvsc: ENST00000539049.1:c.*1379-276G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000443426
  ensembl transcript: ENST00000542838
  gene symbol: DDX11
  hgvsc: ENST00000542838.1:c.2537-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000384703
  ensembl transcript: ENST00000407793
  gene symbol: DDX11
  hgvsc: ENST00000407793.2:c.2532-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000309965
  ensembl transcript: ENST00000350437
  gene symbol: DDX11
  hgvsc: ENST00000350437.4:c.2387-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000445219
  ensembl transcript: ENST00000538345
  gene symbol: DDX11
  hgvsc: ENST00000538345.1:c.*190-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000228264
  ensembl transcript: ENST00000228264
  gene symbol: DDX11
  hgvsc: ENST00000228264.6:c.2459-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000251758
  ensembl transcript: ENST00000251758
  gene symbol: DDX11
  hgvsc: ENST00000251758.5:c.*1858-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000441015
  ensembl transcript: ENST00000539702
  gene symbol: DDX11
  hgvsc: ENST00000539702.1:c.334-46G>T
  variant of: http://identifiers.org/hgnc/2736
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013573
  ensembl protein: ENSP00000440402
  ensembl transcript: ENST00000545668
  gene symbol: DDX11
  hgvsc: ENST00000545668.1:c.2532-46G>T
  variant of: http://identifiers.org/hgnc/2736
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 982
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2152
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16760
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30874
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9568
bin: 9.75e1
variant carriers: 7

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: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.246026931942254e-4
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.24e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.869579e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

VQSLOD
type: SiteQuality
SIO_000300: -2.032e0

MQ
type: SiteQuality
SIO_000300: 4.36e1

FS
type: SiteQuality
SIO_000300: 1.117e0

GenotypeDepth
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2152
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.142e0

MQ
type: SiteQuality
SIO_000300: 4.185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.869338e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.198e0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30779
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
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: -6.008e0

MQRankSum
type: SiteQuality
SIO_000300: -1.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 4.285e1

DP
type: SiteQuality
SIO_000300: 1.867795e6

FS
type: SiteQuality
SIO_000300: 8.337999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.732e0

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1453
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Latino
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Other
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QD
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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Latino
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MQ
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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Other
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African
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 7.466e0

QD
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 1.842191e6

VQSLOD
type: SiteQuality
SIO_000300: -2.416e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: 3.4e-3

BaseQRankSum
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SIO_000300: -2.288e0

MQ
type: SiteQuality
SIO_000300: 5.38e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 4.771e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.825679e6

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.53e-1

BaseQRankSum
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SIO_000300: 1.8e0

QD
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SIO_000300: 1.441e1

VQSLOD
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SIO_000300: -1.884e0

MQRankSum
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SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.221932114882506e-4
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.522158577027435e-5
allele num: 66340
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 2.079e0

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.818038e6

QD
type: SiteQuality
SIO_000300: 1.191e1

MQ
type: SiteQuality
SIO_000300: 5.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
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: 3
allele frequency: 4.524340954334319e-5
allele num: 66308
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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QD
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.56e-2

ClippingRankSum
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SIO_000300: -4.62e-1

GenotypeDepth
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variant carriers: 1

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

Latino
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allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016227302889546e-5
allele num: 66308
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele num: 16422
num of homozygotes: 0

African
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Other
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allele num: 894
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1024
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variant carriers: 0

African
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allele count: 17
allele frequency: 1.64664858581945e-3
allele num: 10324
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1442
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66092
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 54
allele frequency: 3.297508549096238e-3
allele num: 16376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 1.775354e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 4.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.28e0

GenotypeDepth
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7999
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42938
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.140670791273201e-5
allele num: 12284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: -1.681e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

DP
type: SiteQuality
SIO_000300: 1.416155e6

FS
type: SiteQuality
SIO_000300: 7.687e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.44e1

GenotypeDepth
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.594896331738437e-4
allele num: 6270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.744e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

FS
type: SiteQuality
SIO_000300: 5.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

DP
type: SiteQuality
SIO_000300: 1.425525e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -4.405e0

QD
type: SiteQuality
SIO_000300: 5.99e0

GenotypeDepth
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 5282
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1684
bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8000
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.273450643386532e-5
allele num: 43986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.475333e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.87e0

QD
type: SiteQuality
SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 4.588e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeDepth
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 784
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GenotypeQuality
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GenotypeQuality
all individuals: 1155
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variant carriers: 0

GenotypeQuality
all individuals: 8002
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variant carriers: 3

GenotypeQuality
all individuals: 5210
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GenotypeQuality
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GenotypeQuality
all individuals: 5148
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 7399
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
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GenotypeQuality
all individuals: 627
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 761
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.802412588998232e-5
allele num: 44102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.5e1

DP
type: SiteQuality
SIO_000300: 1.481264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 9.422000000000001e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

GenotypeDepth
all individuals: 250
bin: 8.75e1
variant carriers: 121

GenotypeDepth
all individuals: 1023
bin: 3.25e1
variant carriers: 879

GenotypeQuality
all individuals: 949
bin: 5.75e1
variant carriers: 865

GenotypeQuality
all individuals: 2204
bin: 4.75e1
variant carriers: 1973

GenotypeQuality
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bin: 4.25e1
variant carriers: 1052

GenotypeQuality
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variant carriers: 440

GenotypeQuality
all individuals: 2009
bin: 5.25e1
variant carriers: 1871

GenotypeQuality
all individuals: 745
bin: 1.75e1
variant carriers: 533

GenotypeQuality
all individuals: 30802
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variant carriers: 29184

GenotypeQuality
all individuals: 801
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variant carriers: 229

GenotypeQuality
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bin: 2.5e0
variant carriers: 145

GenotypeQuality
all individuals: 1748
bin: 2.75e1
variant carriers: 637

GenotypeQuality
all individuals: 514
bin: 1.25e1
variant carriers: 276

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 435

GenotypeQuality
all individuals: 5674
bin: 2.25e1
variant carriers: 803

GenotypeQuality
all individuals: 2636
bin: 3.75e1
variant carriers: 1808

GenotypeQuality
all individuals: 2846
bin: 3.25e1
variant carriers: 1430

GenotypeQuality
all individuals: 3762
bin: 6.25e1
variant carriers: 1353

GenotypeQuality
all individuals: 604
bin: 7.75e1
variant carriers: 551

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 184

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 291

GenotypeQuality
all individuals: 1121
bin: 6.75e1
variant carriers: 961

African
type: Population
allele count: 5722
allele frequency: 6.976347232382346e-1
allele num: 8202
num of homozygotes: 1917

East Asian
type: Population
allele count: 6277
allele frequency: 8.18169968717414e-1
allele num: 7672
num of homozygotes: 2539

European (Finnish)
type: Population
allele count: 2408
allele frequency: 4.76077500988533e-1
allele num: 5058
num of homozygotes: 520

European (Non-Finnish)
type: Population
allele count: 25011
allele frequency: 4.74268052184466e-1
allele num: 52736
num of homozygotes: 5228

Latino
type: Population
allele count: 6911
allele frequency: 7.002026342451875e-1
allele num: 9870
num of homozygotes: 2310

Other
type: Population
allele count: 384
allele frequency: 5.333333333333333e-1
allele num: 720
num of homozygotes: 90

South Asian
type: Population
allele count: 8438
allele frequency: 5.914762372073461e-1
allele num: 14266
num of homozygotes: 2456

MQ
type: SiteQuality
SIO_000300: 4.641e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.05e-2

QD
type: SiteQuality
SIO_000300: 2.844e1

DP
type: SiteQuality
SIO_000300: 1.813216e6

FS
type: SiteQuality
SIO_000300: 2.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeDepth
all individuals: 5274
bin: 9.75e1
variant carriers: 4754

GenotypeDepth
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variant carriers: 214

GenotypeQuality
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variant carriers: 435

GenotypeQuality
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bin: 4.75e1
variant carriers: 1976

GenotypeQuality
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bin: 4.25e1
variant carriers: 1054

GenotypeQuality
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variant carriers: 532

GenotypeQuality
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bin: 2.25e1
variant carriers: 802

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1431

GenotypeQuality
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bin: 6.75e1
variant carriers: 962

GenotypeQuality
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bin: 2.5e0
variant carriers: 146

GenotypeQuality
all individuals: 2574
bin: 3.75e1
variant carriers: 1808

GenotypeQuality
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variant carriers: 440

GenotypeQuality
all individuals: 938
bin: 5.75e1
variant carriers: 865

GenotypeQuality
all individuals: 504
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variant carriers: 275

GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 602
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variant carriers: 549

GenotypeQuality
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variant carriers: 29186

GenotypeQuality
all individuals: 1707
bin: 2.75e1
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GenotypeQuality
all individuals: 3959
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GenotypeQuality
all individuals: 2021
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variant carriers: 1869

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 290

African
type: Population
allele count: 5780
allele frequency: 6.987427466150871e-1
allele num: 8272
num of homozygotes: 1939

European (Finnish)
type: Population
allele count: 2439
allele frequency: 4.778605015673981e-1
allele num: 5104
num of homozygotes: 528

East Asian
type: Population
allele count: 6340
allele frequency: 8.178534571723426e-1
allele num: 7752
num of homozygotes: 2561

Other
type: Population
allele count: 387
allele frequency: 5.315934065934066e-1
allele num: 728
num of homozygotes: 91

European (Non-Finnish)
type: Population
allele count: 25234
allele frequency: 4.753060840082878e-1
allele num: 53090
num of homozygotes: 5274

Latino
type: Population
allele count: 6950
allele frequency: 7.006048387096774e-1
allele num: 9920
num of homozygotes: 2319

South Asian
type: Population
allele count: 8484
allele frequency: 5.914668153931958e-1
allele num: 14344
num of homozygotes: 2469

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.02e-2

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.375e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 4.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 2.814e1

DP
type: SiteQuality
SIO_000300: 1.836883e6

GenotypeDepth
all individuals: 507
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 377
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GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 3254
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GenotypeQuality
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GenotypeQuality
all individuals: 4238
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GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 2158
bin: 4.25e1
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GenotypeQuality
all individuals: 1601
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GenotypeQuality
all individuals: 881
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GenotypeQuality
all individuals: 856
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 3803
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GenotypeQuality
all individuals: 643
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GenotypeQuality
all individuals: 7470
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GenotypeQuality
all individuals: 4154
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13806
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

Latino
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allele count: 0
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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 frequency: 1.897821301146284e-5
allele num: 52692
num of homozygotes: 0

VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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allele frequency: 1.274534794799898e-4
allele num: 7846
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 53796
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.877370179852063e-5
allele num: 53266
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Latino
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South Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.52e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 2
allele frequency: 2.770083102493075e-3
allele num: 722
num of homozygotes: 0

European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 53274
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African
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Latino
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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African
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East Asian
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
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allele num: 7400
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Other
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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
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 9.62e-1

MQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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East Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 3.279320987654321e-4
allele num: 51840
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 7.336757153338225e-4
allele num: 13630
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Latino
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European (Non-Finnish)
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allele frequency: 1.957330201605011e-5
allele num: 51090
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African
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QD
type: SiteQuality
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Other
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European (Finnish)
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13414
num of homozygotes: 0

European (Finnish)
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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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49350
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.396258028483664e-4
allele num: 7162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.838e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -4.52e-1

DP
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SIO_000300: 1.436489e6

QD
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SIO_000300: 9.06e0

VQSLOD
type: SiteQuality
SIO_000300: -2.712e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeDepth
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bin: 1.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.965599051008304e-4
allele num: 6744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49332
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.436185e6

InbreedingCoeff
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BaseQRankSum
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SIO_000300: 1.83e0

QD
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SIO_000300: 2.87e0

ReadPosRankSum
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SIO_000300: 3.82e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.696e0

MQ
type: SiteQuality
SIO_000300: 3.854e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47898
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 3.444e1

VQSLOD
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SIO_000300: -4.323e0

FS
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
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SIO_000300: 2.01e0

DP
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SIO_000300: 1.370374e6

ReadPosRankSum
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SIO_000300: -3.5e-2

BaseQRankSum
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SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45154
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 9.06070673512534e-4
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12684
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 4.05e0

FS
type: SiteQuality
SIO_000300: 4.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.923e0

DP
type: SiteQuality
SIO_000300: 1.311799e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQ
type: SiteQuality
SIO_000300: 3.186e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 123

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 195
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variant carriers: 1

GenotypeQuality
all individuals: 3208
bin: 6.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.221629787612192e-5
allele num: 45012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 131
allele frequency: 2.128696782580436e-2
allele num: 6154
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 5.960896518836433e-4
allele num: 8388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.890168849613381e-5
allele num: 12674
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
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VQSLOD
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FS
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.310749e6

InbreedingCoeff
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SIO_000300: -6.9e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.936507936507937e-5
allele num: 12600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 3.249e1

QD
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SIO_000300: 7.64e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

South Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.305489e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 3171
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.376399339328317e-4
allele num: 43592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.242e1

DP
type: SiteQuality
SIO_000300: 1.300885e6

FS
type: SiteQuality
SIO_000300: 9.941000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

QD
type: SiteQuality
SIO_000300: 6.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeDepth
all individuals: 1094
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.288015375463323e-5
allele num: 43706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.248e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
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SIO_000300: 6.36e0

MQ
type: SiteQuality
SIO_000300: 3.559e1

DP
type: SiteQuality
SIO_000300: 1.297953e6

ClippingRankSum
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SIO_000300: -1.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.52e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 374
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variant carriers: 0

GenotypeQuality
all individuals: 22070
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.999360102383618e-4
allele num: 12502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

VQSLOD
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SIO_000300: -3.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 1.297894e6

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 3.635e1

FS
type: SiteQuality
SIO_000300: 2.413e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1070
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1076
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 7109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 465
bin: 5.25e1
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GenotypeQuality
all individuals: 7460
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.58378207158695e-4
allele num: 6314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43292
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.931e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
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SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 3.751e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.296313e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3095
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variant carriers: 0

GenotypeQuality
all individuals: 450
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 361
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.297899e6

BaseQRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 4.324e1

VQSLOD
type: SiteQuality
SIO_000300: -2.374e0

GenotypeDepth
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variant carriers: 10186

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1161

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1164

GenotypeQuality
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variant carriers: 2573

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1026

GenotypeQuality
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variant carriers: 650

GenotypeQuality
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bin: 3.25e1
variant carriers: 2293

GenotypeQuality
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variant carriers: 747

GenotypeQuality
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bin: 2.25e1
variant carriers: 1622

GenotypeQuality
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bin: 6.75e1
variant carriers: 979

GenotypeQuality
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GenotypeQuality
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variant carriers: 2140

GenotypeQuality
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variant carriers: 786

GenotypeQuality
all individuals: 1638
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variant carriers: 444

GenotypeQuality
all individuals: 1539
bin: 4.25e1
variant carriers: 1399

African
type: Population
allele count: 4878
allele frequency: 7.13784021071115e-1
allele num: 6834
num of homozygotes: 1690

European (Non-Finnish)
type: Population
allele count: 22490
allele frequency: 4.897008230631886e-1
allele num: 45926
num of homozygotes: 5033

Latino
type: Population
allele count: 6044
allele frequency: 7.238323353293413e-1
allele num: 8350
num of homozygotes: 2108

South Asian
type: Population
allele count: 8022
allele frequency: 5.920295202952029e-1
allele num: 13550
num of homozygotes: 2358

European (Finnish)
type: Population
allele count: 2344
allele frequency: 4.920235096557515e-1
allele num: 4764
num of homozygotes: 536

East Asian
type: Population
allele count: 5585
allele frequency: 8.288809735826654e-1
allele num: 6738
num of homozygotes: 2297

Other
type: Population
allele count: 367
allele frequency: 5.461309523809523e-1
allele num: 672
num of homozygotes: 90

QD
type: SiteQuality
SIO_000300: 1.962e1

FS
type: SiteQuality
SIO_000300: 2.138e0

DP
type: SiteQuality
SIO_000300: 1.394196e6

ClippingRankSum
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SIO_000300: 1.01e-1

BaseQRankSum
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SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 3.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.890000000000001e-2

MQRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
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variant carriers: 2

GenotypeQuality
all individuals: 251
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.528985507246377e-5
allele num: 44160
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.298701298701299e-4
allele num: 7700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13084
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 2.867155144950621e-3
allele num: 6278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.066e1

DP
type: SiteQuality
SIO_000300: 1.291279e6

VQSLOD
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ClippingRankSum
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SIO_000300: 2.78e-1

InbreedingCoeff
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SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
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SIO_000300: -3.36e-1

MQRankSum
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SIO_000300: 2.48e-1

QD
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SIO_000300: 1.439e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8376
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13118
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.497211728728189e-5
allele num: 44472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 1.52e0

DP
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SIO_000300: 1.300918e6

MQ
type: SiteQuality
SIO_000300: 4.337e1

VQSLOD
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SIO_000300: -2.248e0

MQRankSum
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SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16316
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.621951219512195e-5
allele num: 13120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44426
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.879e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
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SIO_000300: -2.855e0

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 4.497e1

VQSLOD
type: SiteQuality
SIO_000300: -1.87e0

DP
type: SiteQuality
SIO_000300: 1.301728e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 4.6e1

VQSLOD
type: SiteQuality
SIO_000300: -1.926e0

ReadPosRankSum
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SIO_000300: 7.47e-1

BaseQRankSum
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SIO_000300: -1.423e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 1.307159e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 192

GenotypeDepth
all individuals: 474
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variant carriers: 358

GenotypeQuality
all individuals: 25072
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variant carriers: 23439

GenotypeQuality
all individuals: 1192
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variant carriers: 342

GenotypeQuality
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variant carriers: 476

GenotypeQuality
all individuals: 655
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variant carriers: 634

GenotypeQuality
all individuals: 2314
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variant carriers: 1029

GenotypeQuality
all individuals: 803
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variant carriers: 772

GenotypeQuality
all individuals: 1545
bin: 4.25e1
variant carriers: 1335

GenotypeQuality
all individuals: 1997
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variant carriers: 235

GenotypeQuality
all individuals: 3495
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variant carriers: 2231

GenotypeQuality
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variant carriers: 2408

GenotypeQuality
all individuals: 1098
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variant carriers: 984

GenotypeQuality
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variant carriers: 1169

GenotypeQuality
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bin: 1.75e1
variant carriers: 895

GenotypeQuality
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variant carriers: 747

GenotypeQuality
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variant carriers: 2146

GenotypeQuality
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variant carriers: 891

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 692

GenotypeQuality
all individuals: 666
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variant carriers: 637

GenotypeQuality
all individuals: 1842
bin: 5.25e1
variant carriers: 1713

GenotypeQuality
all individuals: 7458
bin: 2.25e1
variant carriers: 1419

Latino
type: Population
allele count: 6049
allele frequency: 7.121497527666588e-1
allele num: 8494
num of homozygotes: 2067

Other
type: Population
allele count: 374
allele frequency: 5.436046511627907e-1
allele num: 688
num of homozygotes: 90

East Asian
type: Population
allele count: 5626
allele frequency: 8.251686711645644e-1
allele num: 6818
num of homozygotes: 2304

European (Finnish)
type: Population
allele count: 2396
allele frequency: 4.733306993283287e-1
allele num: 5062
num of homozygotes: 516

European (Non-Finnish)
type: Population
allele count: 23067
allele frequency: 4.78926168922847e-1
allele num: 48164
num of homozygotes: 5011

African
type: Population
allele count: 5232
allele frequency: 7.10676446617767e-1
allele num: 7362
num of homozygotes: 1800

South Asian
type: Population
allele count: 8297
allele frequency: 5.91122827016244e-1
allele num: 14036
num of homozygotes: 2431

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.49e-2

MQ
type: SiteQuality
SIO_000300: 4.253e1

DP
type: SiteQuality
SIO_000300: 1.397039e6

QD
type: SiteQuality
SIO_000300: 1.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

FS
type: SiteQuality
SIO_000300: 2.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

GenotypeDepth
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6014
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2774
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GenotypeQuality
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.065006401519845e-5
allele num: 48426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.447e0

MQRankSum
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SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
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SIO_000300: 1.329069e6

ReadPosRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 3.942e1

QD
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SIO_000300: 1.677e1

BaseQRankSum
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SIO_000300: -2.383e0

VQSLOD
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SIO_000300: -2.931e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 22876
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
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: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.05101293629485e-5
allele num: 65552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 3.213e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
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SIO_000300: 5.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.724e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525506468147425e-5
allele num: 65552
num of homozygotes: 0

Other
type: Population
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Latino
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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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 9.99e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
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

FS
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SIO_000300: 2.806e0

BaseQRankSum
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SIO_000300: 2.13e0

InbreedingCoeff
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MQ
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SIO_000300: 5.24e1

VQSLOD
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QD
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SIO_000300: 1.277e1

MQRankSum
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ClippingRankSum
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SIO_000300: 4.7e-2

DP
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SIO_000300: 1.682826e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528350909368791e-5
allele num: 65430
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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SIO_000300: 2.806e0

VQSLOD
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SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.113403637475164e-5
allele num: 65430
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

Latino
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allele frequency: 3.520506953001232e-4
allele num: 11362
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
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SIO_000300: 2.806e0

MQ
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SIO_000300: 5.24e1

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 4.7e-2

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 1.682826e6

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
all individuals: 56
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.359086328518643e-4
allele num: 65494
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 5
allele frequency: 5.147210212065061e-4
allele num: 9714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

MQ
type: SiteQuality
SIO_000300: 5.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.299e1

DP
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SIO_000300: 1.681364e6

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 34

GenotypeQuality
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GenotypeQuality
all individuals: 7436
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.637130801687763e-4
allele num: 11376
num of homozygotes: 0

South Asian
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allele count: 20
allele frequency: 1.227295041728031e-3
allele num: 16296
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.221485937643143e-4
allele num: 65494
num of homozygotes: 0

African
type: Population
allele count: 1
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allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 1
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allele num: 886
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.061e1

VQSLOD
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SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 15

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: 557

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.290286133080893e-4
allele num: 65494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 451
allele frequency: 4.642783611282685e-2
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num of homozygotes: 12

South Asian
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allele count: 50
allele frequency: 3.068237604320078e-3
allele num: 16296
num of homozygotes: 1

East Asian
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allele count: 56
allele frequency: 6.563525550867323e-3
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num of homozygotes: 2

Latino
type: Population
allele count: 15
allele frequency: 1.318565400843882e-3
allele num: 11376
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.514672686230248e-3
allele num: 886
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: 1.4e-1

GenotypeDepth
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variant carriers: 0

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

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.053435114503817e-5
allele num: 65500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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BaseQRankSum
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SIO_000300: -1.393e0

FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6244
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24448
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759014951627089e-4
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.677528e6

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

MQ
type: SiteQuality
SIO_000300: 5.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1