19-48624590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624590
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624590
    reference: chr 19
allele count: 1
allele frequency: 1.078655563705398e-5
allele num: 92708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+74G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-11C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+74G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-11C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-48624591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624591
    reference: chr 19
allele count: 1
allele frequency: 1.09394827812541e-5
allele num: 91412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+75G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+75G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-12C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-12C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

19-48624592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624592
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624592
    reference: chr 19
allele count: 1
allele frequency: 1.099529401416194e-5
allele num: 90948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+76G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+76G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-13C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-13C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

19-48624594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624594
    reference: chr 19
allele count: 49
allele frequency: 5.462775089745591e-4
allele num: 89698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+78G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-15C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+78G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-15C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12615
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24443
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27791
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-48624595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624595
    reference: chr 19
allele count: 1
allele frequency: 1.118943717131028e-5
allele num: 89370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+79G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-16C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+79G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-48624603-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624603
    reference: chr 19
allele count: 10
allele frequency: 1.176581325301205e-4
allele num: 84992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-24A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+87T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+87T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-24A>C
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-48624609-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624609
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624609
    reference: chr 19
allele count: 1
allele frequency: 1.278935925310142e-5
allele num: 78190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+93G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+93G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-30C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-30C>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24970
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6671
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-48624613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624613
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624613
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 74086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+97G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+97G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-34C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-34C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-48624615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624615
    reference: chr 19
allele count: 2
allele frequency: 2.891761371851595e-5
allele num: 69162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+99G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+99G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-36C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19135
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-48624616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624616
    reference: chr 19
allele count: 8
allele frequency: 1.167337885951089e-4
allele num: 68532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+100C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+100C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-37G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21651
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

19-48624617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624617
    reference: chr 19
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+101G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+101G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-38C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-38C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21078
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-48624625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624625
    reference: chr 19
allele count: 29922
allele frequency: 4.8946541909311e-1
allele num: 61132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+109C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+109C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-46G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-46G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 2.25e1
  variant carriers: 2089
genotype depth: GenotypeDepth
  all individuals: 22063
  bin: 7.5e0
  variant carriers: 12411
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 2.5e0
  variant carriers: 1296
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 1.75e1
  variant carriers: 6221
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 1.25e1
  variant carriers: 13552
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.5e0
  variant carriers: 690
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 881
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 3.75e1
  variant carriers: 1796
num of homozygotes: 7004
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-48624626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624626
    reference: chr 19
allele count: 4
allele frequency: 7.288895367906994e-5
allele num: 54878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-47C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+110G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+110G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-47C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-48624629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48624629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48624629
    reference: chr 19
allele count: 1
allele frequency: 1.938886303707151e-5
allele num: 51576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2230-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.170+113G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2029-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+113G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2140-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.534-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2233-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1989-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2233-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*557-50C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

19-48626140-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626140
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+518C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+51G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1624C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

19-48626152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626152
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+530C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1636C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+39G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+39G>C
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

19-48626154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626154
    reference: chr 19
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+532C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+37G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1638C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-48626155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626155
    reference: chr 19
allele count: 12
allele frequency: 9.884190237714775e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+533G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1639G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+36C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+36C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

19-48626159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626159
    reference: chr 19
allele count: 570
allele frequency: 4.695763926647225e-3
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1643T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+537T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+32A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+32A>G
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 9.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 9.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 15
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-48626168-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626168
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626168
    reference: chr 19
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1652C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+546C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+23G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+23G>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-48626174-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626175
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1663dupG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+557dupG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+16dupC
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+16dupC
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

19-48626175-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626175
    reference: chr 19
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+553G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+16C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1659G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+16C>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-48626181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626181
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+559C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+10G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1665C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-48626181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626181
    reference: chr 19
allele count: 574
allele frequency: 4.727937663706901e-3
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1665C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+10G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+559C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 9.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 16
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-48626182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626182
    reference: chr 19
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1988+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2232+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*556+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2028+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2232+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.533+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1666G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2229+9C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+560G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2139+9C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

19-48626201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626201
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2222A>G
  hgvsp: ENSP00000471836.1:p.Asn741Ser
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2222A>G
  hgvsp: ENSP00000263274.6:p.Asn741Ser
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1978A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.523A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2018A>G
  hgvsp: ENSP00000441531.1:p.Asn673Ser
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*546A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2129A>G
  hgvsp: ENSP00000442841.1:p.Asn710Ser
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+579T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2219A>G
  hgvsp: ENSP00000471380.1:p.Asn740Ser
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1685T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn741Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-48626206-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626206
    reference: chr 19
allele count: 7
allele frequency: 5.765587678115476e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2217G>T
  hgvsp: ENST00000601091.1:c.2217G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2217G>T
  hgvsp: ENST00000263274.7:c.2217G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2013G>T
  hgvsp: ENST00000536218.1:c.2013G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*541G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2124G>T
  hgvsp: ENST00000427526.2:c.2124G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2214G>T
  hgvsp: ENST00000594759.1:c.2214G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.518G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1690C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+584C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1973G>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser739Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-48626206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626206
    reference: chr 19
allele count: 8
allele frequency: 6.589243060703402e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.518G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2217G>A
  hgvsp: ENST00000263274.7:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2217G>A
  hgvsp: ENST00000601091.1:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2124G>A
  hgvsp: ENST00000427526.2:c.2124G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2214G>A
  hgvsp: ENST00000594759.1:c.2214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1690C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2013G>A
  hgvsp: ENST00000536218.1:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*541G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+584C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1973G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser739Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-48626207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626207
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626207
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.517C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+585G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2216C>T
  hgvsp: ENSP00000471836.1:p.Ser739Leu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*540C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1691G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2213C>T
  hgvsp: ENSP00000471380.1:p.Ser738Leu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1972C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2123C>T
  hgvsp: ENSP00000442841.1:p.Ser708Leu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2216C>T
  hgvsp: ENSP00000263274.6:p.Ser739Leu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2012C>T
  hgvsp: ENSP00000441531.1:p.Ser671Leu
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser739Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-48626217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626217
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626217
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1962G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2206G>A
  hgvsp: ENSP00000471836.1:p.Ala736Thr
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2206G>A
  hgvsp: ENSP00000263274.6:p.Ala736Thr
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2002G>A
  hgvsp: ENSP00000441531.1:p.Ala668Thr
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2113G>A
  hgvsp: ENSP00000442841.1:p.Ala705Thr
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.507G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1701C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2203G>A
  hgvsp: ENSP00000471380.1:p.Ala735Thr
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+595C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala736Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

19-48626218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626218
    reference: chr 19
allele count: 92
allele frequency: 7.577629519808912e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.2001C>T
  hgvsp: ENST00000536218.1:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2205C>T
  hgvsp: ENST00000263274.7:c.2205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1702G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1961C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2202C>T
  hgvsp: ENST00000594759.1:c.2202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2112C>T
  hgvsp: ENST00000427526.2:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*529C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.506C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2205C>T
  hgvsp: ENST00000601091.1:c.2205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+596G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile735Ile
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-48626224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626224
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626224
    reference: chr 19
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1995C>T
  hgvsp: ENST00000536218.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2199C>T
  hgvsp: ENST00000601091.1:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1955C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+602G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2196C>T
  hgvsp: ENST00000594759.1:c.2196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2199C>T
  hgvsp: ENST00000263274.7:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1708G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.500C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*523C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2106C>T
  hgvsp: ENST00000427526.2:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr733Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-48626236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626236
    reference: chr 19
allele count: 221
allele frequency: 1.820278395519315e-3
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*511T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2187T>C
  hgvsp: ENST00000263274.7:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2187T>C
  hgvsp: ENST00000601091.1:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2184T>C
  hgvsp: ENST00000594759.1:c.2184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1983T>C
  hgvsp: ENST00000536218.1:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2094T>C
  hgvsp: ENST00000427526.2:c.2094T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.488T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1720A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1943T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+614A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 9.75e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val729Val
num of homozygotes: 1
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-48626238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626238
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626238
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2185G>A
  hgvsp: ENSP00000471836.1:p.Val729Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1981G>A
  hgvsp: ENSP00000441531.1:p.Val661Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1722C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2092G>A
  hgvsp: ENSP00000442841.1:p.Val698Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2182G>A
  hgvsp: ENSP00000471380.1:p.Val728Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+616C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*509G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2185G>A
  hgvsp: ENSP00000263274.6:p.Val729Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.486G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1941G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val729Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

19-48626240-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626240
    reference: chr 19
allele count: 12
allele frequency: 9.883864591055103e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2090A>T
  hgvsp: ENSP00000442841.1:p.Asp697Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+618T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*507A>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.484A>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2183A>T
  hgvsp: ENSP00000263274.6:p.Asp728Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1979A>T
  hgvsp: ENSP00000441531.1:p.Asp660Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2183A>T
  hgvsp: ENSP00000471836.1:p.Asp728Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2180A>T
  hgvsp: ENSP00000471380.1:p.Asp727Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1939A>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1724T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp728Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-48626254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626254
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626254
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.470G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+632C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*493G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2169G>A
  hgvsp: ENSP00000471836.1:p.Met723Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1925G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1738C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2166G>A
  hgvsp: ENSP00000471380.1:p.Met722Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2169G>A
  hgvsp: ENSP00000263274.6:p.Met723Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2076G>A
  hgvsp: ENSP00000442841.1:p.Met692Ile
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1965G>A
  hgvsp: ENSP00000441531.1:p.Met655Ile
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met723Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-48626261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626261
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2159G>T
  hgvsp: ENSP00000471380.1:p.Gly720Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.463G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2162G>T
  hgvsp: ENSP00000471836.1:p.Gly721Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2069G>T
  hgvsp: ENSP00000442841.1:p.Gly690Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*486G>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2162G>T
  hgvsp: ENSP00000263274.6:p.Gly721Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+639C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1958G>T
  hgvsp: ENSP00000441531.1:p.Gly653Val
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1745C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1918G>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly721Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-48626265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626265
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626265
    reference: chr 19
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2158G>A
  hgvsp: ENSP00000471836.1:p.Glu720Lys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2155G>A
  hgvsp: ENSP00000471380.1:p.Glu719Lys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1954G>A
  hgvsp: ENSP00000441531.1:p.Glu652Lys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1914G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1749C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2158G>A
  hgvsp: ENSP00000263274.6:p.Glu720Lys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*482G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+643C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.459G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2065G>A
  hgvsp: ENSP00000442841.1:p.Glu689Lys
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu720Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-48626266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626266
    reference: chr 19
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*481C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2154C>T
  hgvsp: ENST00000594759.1:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+644G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1913C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2157C>T
  hgvsp: ENST00000263274.7:c.2157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1750G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.458C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2157C>T
  hgvsp: ENST00000601091.1:c.2157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1953C>T
  hgvsp: ENST00000536218.1:c.1953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2064C>T
  hgvsp: ENST00000427526.2:c.2064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys719Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

19-48626270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626270
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626270
    reference: chr 19
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*477C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1754G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1949C>T
  hgvsp: ENSP00000441531.1:p.Ser650Phe
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.454C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2060C>T
  hgvsp: ENSP00000442841.1:p.Ser687Phe
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+648G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2153C>T
  hgvsp: ENSP00000263274.6:p.Ser718Phe
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1909C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2153C>T
  hgvsp: ENSP00000471836.1:p.Ser718Phe
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2150C>T
  hgvsp: ENSP00000471380.1:p.Ser717Phe
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54896
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser718Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-48626270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626270
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626270
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+648G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2060C>G
  hgvsp: ENSP00000442841.1:p.Ser687Cys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1949C>G
  hgvsp: ENSP00000441531.1:p.Ser650Cys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2153C>G
  hgvsp: ENSP00000471836.1:p.Ser718Cys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2150C>G
  hgvsp: ENSP00000471380.1:p.Ser717Cys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.454C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*477C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2153C>G
  hgvsp: ENSP00000263274.6:p.Ser718Cys
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1909C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1754G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser718Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

19-48626272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626272
    reference: chr 19
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.452C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2058C>T
  hgvsp: ENST00000427526.2:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2151C>T
  hgvsp: ENST00000601091.1:c.2151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2151C>T
  hgvsp: ENST00000263274.7:c.2151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1756G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*475C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1947C>T
  hgvsp: ENST00000536218.1:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2148C>T
  hgvsp: ENST00000594759.1:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+650G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1907C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2151C>T
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-48626272-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626272
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626272
    reference: chr 19
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2058C>A
  hgvsp: ENSP00000442841.1:p.Asp686Glu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*475C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1947C>A
  hgvsp: ENSP00000441531.1:p.Asp649Glu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2148C>A
  hgvsp: ENSP00000471380.1:p.Asp716Glu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2151C>A
  hgvsp: ENSP00000471836.1:p.Asp717Glu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1907C>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2151C>A
  hgvsp: ENSP00000263274.6:p.Asp717Glu
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1756G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+650G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.452C>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp717Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-48626277-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626277
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626277
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-4T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1761A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+655A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-4T>G
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2150-4T>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-48626286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626286
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626286
    reference: chr 19
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+664C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1770C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-13G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-13G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

19-48626293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626293
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+671G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1777G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-20C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-20C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54894
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

19-48626296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626296
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626296
    reference: chr 19
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1780G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-23C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+674G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-48626298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626298
    reference: chr 19
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1782C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+676C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-25G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-25G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-48626299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626299
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626299
    reference: chr 19
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+677C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1783C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-26G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-26G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-48626300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626300
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626300
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+678T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-27A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1784T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-48626300-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626300
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626300
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1784T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+678T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-27A>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-27A>C
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-48626306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626306
    reference: chr 19
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+684A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1790A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-33T>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-33T>C
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54892
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-48626311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626311
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626311
    reference: chr 19
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+689T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1795T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-38A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-38A>G
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-48626318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626318
    reference: chr 19
allele count: 9
allele frequency: 7.414974953862378e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+696C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-45G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1802C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-45G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-48626322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626322
    reference: chr 19
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+700C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1806C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-49G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-49G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

19-48626323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626323
    reference: chr 19
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.451-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2150-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2147-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2150-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1807G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1946-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1906-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2057-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*474-50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+701G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-48626380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626380
    reference: chr 19
allele count: 4
allele frequency: 3.297065611605671e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+758C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1864C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+51G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+51G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11435
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

19-48626381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626381
    reference: chr 19
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+759G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1865G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+50C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+50C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-48626383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626383
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626383
    reference: chr 19
allele count: 15
allele frequency: 1.236379222235044e-4
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1867G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+761G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+48C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+48C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 25678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-48626389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626389
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626389
    reference: chr 19
allele count: 1781
allele frequency: 1.467945864859964e-2
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+767C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1873C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+42G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+42G>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21903
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 9.75e1
  variant carriers: 795
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 11471
  bin: 9.75e1
  variant carriers: 1759
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 21
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-48626390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626390
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626390
    reference: chr 19
allele count: 4
allele frequency: 3.296902560044838e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+41C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+768G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1874G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-48626396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626396
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626396
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1880T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+774T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+35A>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+35A>G
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-48626412-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626412
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626408
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+15_*473+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+15_2056+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1897_176+1900delAAAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+15_2149+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+15_1905+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+15_2146+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+791_327+794delAAAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+15_2149+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+15_450+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+15_1945+18delTTTT
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GAAAA
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-48626417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626417
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+795G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1901G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+14C>T
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+14C>T
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-48626419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626419
    reference: chr 19
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1903G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+12C>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+797G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+12C>G
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-48626420-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626420
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626420
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1904A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+798A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+11T>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+11T>A
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26256
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-48626424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626424
    reference: chr 19
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.450+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*473+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1905+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2056+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2146+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2149+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2149+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1945+7G>A
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+802C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1908C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2149+7G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-48626448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626448
    reference: chr 19
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2132T>G
  hgvsp: ENSP00000263274.6:p.Leu711Arg
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*456T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.433T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+826A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1928T>G
  hgvsp: ENSP00000441531.1:p.Leu643Arg
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2129T>G
  hgvsp: ENSP00000471380.1:p.Leu710Arg
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1932A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1888T>G
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2132T>G
  hgvsp: ENSP00000471836.1:p.Leu711Arg
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2039T>G
  hgvsp: ENSP00000442841.1:p.Leu680Arg
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu711Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

19-48626455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626455
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 48626455
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000441531
  ensembl transcript: ENST00000536218
  gene symbol: LIG1
  hgvsc: ENST00000536218.1:c.1921G>C
  hgvsp: ENSP00000441531.1:p.Glu641Gln
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000442841
  ensembl transcript: ENST00000427526
  gene symbol: LIG1
  hgvsc: ENST00000427526.2:c.2032G>C
  hgvsp: ENSP00000442841.1:p.Glu678Gln
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000263274
  ensembl transcript: ENST00000263274
  gene symbol: LIG1
  hgvsc: ENST00000263274.7:c.2125G>C
  hgvsp: ENSP00000263274.6:p.Glu709Gln
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471836
  ensembl transcript: ENST00000601091
  gene symbol: LIG1
  hgvsc: ENST00000601091.1:c.2125G>C
  hgvsp: ENSP00000471836.1:p.Glu709Gln
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000596332
  gene symbol: LIG1
  hgvsc: ENST00000596332.1:n.426G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000472331
  ensembl transcript: ENST00000596672
  gene symbol: LIG1
  hgvsc: ENST00000596672.1:c.*449G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596563
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596563.1:n.176+1939C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105486
  ensembl transcript: ENST00000594067
  gene symbol: LIG1
  hgvsc: ENST00000594067.1:n.1881G>C
  variant of: http://identifiers.org/hgnc/6598
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269534
  ensembl transcript: ENST00000596839
  gene symbol: CTC-453G23.5
  hgvsc: ENST00000596839.1:n.327+833C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105486
  ensembl protein: ENSP00000471380
  ensembl transcript: ENST00000594759
  gene symbol: LIG1
  hgvsc: ENST00000594759.1:c.2122G>C
  hgvsp: ENSP00000471380.1:p.Glu708Gln
  variant of: http://identifiers.org/hgnc/6598
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu709Gln
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51688
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.198065256599443e-5
allele num: 12198
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7956
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

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.77066e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
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allele count: 0
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 count: 0
allele frequency: 0.0e0
allele num: 12000
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.961245783321566e-5
allele num: 50988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
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QD
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VQSLOD
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MQRankSum
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SIO_000300: -4.29e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.969511954937567e-5
allele num: 50774
num of homozygotes: 0

Other
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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: 6474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
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QD
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VQSLOD
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SIO_000300: -4.579e-1

FS
type: SiteQuality
SIO_000300: 6.99e0

ReadPosRankSum
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SIO_000300: -9.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.995928306255239e-5
allele num: 50102
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 6.251953735542357e-4
allele num: 6398
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 5.316390041493776e-3
allele num: 7712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.532423208191126e-5
allele num: 11720
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.44140625e-4
allele num: 8192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.04468e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

FS
type: SiteQuality
SIO_000300: 8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11674
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
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.309243257397224e-4
allele num: 7638
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.483e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 9.02189e5

MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.519e1

ReadPosRankSum
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SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
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
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.094416286181041e-4
allele num: 47746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.250427581240436e-5
allele num: 44436
num of homozygotes: 0

Other
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.424e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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African
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

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

VQSLOD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.620745542949757e-4
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.092050209205021e-4
allele num: 4780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.91836e5

QD
type: SiteQuality
SIO_000300: 1.552e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
all individuals: 7499
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
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variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 4.25e1
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GenotypeQuality
all individuals: 5431
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 2007
bin: 6.25e1
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GenotypeQuality
all individuals: 4774
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GenotypeQuality
all individuals: 20407
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GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 812
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 2
allele frequency: 3.551136363636364e-4
allele num: 5632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.06636943965954e-5
allele num: 39476
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.252032520325203e-4
allele num: 6150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.413709872073377e-4
allele num: 8286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 6.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

DP
type: SiteQuality
SIO_000300: 6.90221e5

GenotypeQuality
all individuals: 7544
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1749
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variant carriers: 0

GenotypeQuality
all individuals: 1317
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variant carriers: 0

GenotypeQuality
all individuals: 859
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GenotypeQuality
all individuals: 5359
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4293
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 6670
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GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 117
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.201673271686482e-4
allele num: 4542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.182421227197347e-5
allele num: 38592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.83641e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 2.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.221e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

GenotypeQuality
all individuals: 4741
bin: 2.5e0
variant carriers: 210

GenotypeQuality
all individuals: 7841
bin: 2.25e1
variant carriers: 2453

GenotypeQuality
all individuals: 1789
bin: 4.75e1
variant carriers: 1447

GenotypeQuality
all individuals: 682
bin: 6.75e1
variant carriers: 593

GenotypeQuality
all individuals: 2751
bin: 2.75e1
variant carriers: 1294

GenotypeQuality
all individuals: 4044
bin: 1.75e1
variant carriers: 2102

GenotypeQuality
all individuals: 15582
bin: 9.75e1
variant carriers: 15524

GenotypeQuality
all individuals: 1335
bin: 5.25e1
variant carriers: 1191

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 669

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 628

GenotypeQuality
all individuals: 900
bin: 9.25e1
variant carriers: 886

GenotypeQuality
all individuals: 3648
bin: 3.25e1
variant carriers: 2039

GenotypeQuality
all individuals: 1247
bin: 4.25e1
variant carriers: 968

GenotypeQuality
all individuals: 989
bin: 6.25e1
variant carriers: 644

GenotypeQuality
all individuals: 1156
bin: 8.25e1
variant carriers: 1133

GenotypeQuality
all individuals: 935
bin: 7.75e1
variant carriers: 890

GenotypeQuality
all individuals: 1065
bin: 8.75e1
variant carriers: 1058

European (Non-Finnish)
type: Population
allele count: 16134
allele frequency: 4.572092496032646e-1
allele num: 35288
num of homozygotes: 3381

South Asian
type: Population
allele count: 3737
allele frequency: 5.056833558863328e-1
allele num: 7390
num of homozygotes: 920

East Asian
type: Population
allele count: 3158
allele frequency: 7.591346153846154e-1
allele num: 4160
num of homozygotes: 1166

Other
type: Population
allele count: 253
allele frequency: 5.292887029288703e-1
allele num: 478
num of homozygotes: 56

European (Finnish)
type: Population
allele count: 1780
allele frequency: 5.263157894736842e-1
allele num: 3382
num of homozygotes: 442

African
type: Population
allele count: 2944
allele frequency: 5.157673440784863e-1
allele num: 5708
num of homozygotes: 703

Latino
type: Population
allele count: 1916
allele frequency: 4.054168429961913e-1
allele num: 4726
num of homozygotes: 336

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 6.62957e5

GenotypeQuality
all individuals: 1364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3666
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
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variant carriers: 0

GenotypeQuality
all individuals: 4909
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variant carriers: 0

GenotypeQuality
all individuals: 17109
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variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5395
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variant carriers: 0

GenotypeQuality
all individuals: 8461
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 70
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variant carriers: 0

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

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6358
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variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 1
allele frequency: 2.475247524752475e-4
allele num: 4040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.098469356138068e-5
allele num: 32274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.856536829926726e-4
allele num: 5186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 3.319e0

DP
type: SiteQuality
SIO_000300: 6.07489e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

QD
type: SiteQuality
SIO_000300: 1.575e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8110
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GenotypeQuality
all individuals: 14059
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variant carriers: 0

GenotypeQuality
all individuals: 10302
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variant carriers: 0

GenotypeQuality
all individuals: 821
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variant carriers: 0

GenotypeQuality
all individuals: 706
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GenotypeQuality
all individuals: 1408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5729
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GenotypeQuality
all individuals: 3664
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variant carriers: 0

GenotypeQuality
all individuals: 1484
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GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 1179
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variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.710027100271003e-4
allele num: 3690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.00441e5

QD
type: SiteQuality
SIO_000300: 1.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.467e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.575e0

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

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 876
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GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 877
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 1121
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 54947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 738
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variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 4.272472e6

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

FS
type: SiteQuality
SIO_000300: 1.787e0

QD
type: SiteQuality
SIO_000300: 1.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 680
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 992
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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
all individuals: 879
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GenotypeQuality
all individuals: 538
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.785e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 4.27296e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54946
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1117
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GenotypeQuality
all individuals: 876
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 21
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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: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 4.764e0

MQRankSum
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SIO_000300: -1.26e-1

MQ
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SIO_000300: 5.959e1

DP
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SIO_000300: 4.273171e6

ReadPosRankSum
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SIO_000300: 6.63e-1

ClippingRankSum
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SIO_000300: -6.21e-1

BaseQRankSum
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SIO_000300: 2.5e-2

QD
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.348597458643011e-4
allele num: 66736
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.102e0

BaseQRankSum
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SIO_000300: 4.3e0

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

Latino
type: Population
allele count: 35
allele frequency: 3.022974607013301e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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)
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allele count: 6
allele frequency: 8.992266650680415e-5
allele num: 66724
num of homozygotes: 0

African
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allele count: 528
allele frequency: 5.075946933282061e-2
allele num: 10402
num of homozygotes: 15

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
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FS
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SIO_000300: 3.364e0

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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QD
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SIO_000300: 1.257e1

ReadPosRankSum
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SIO_000300: 3.34e-1

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
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SIO_000300: -2.864e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.078e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.63e0

MQRankSum
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SIO_000300: 7.82e-1

ClippingRankSum
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SIO_000300: -4.48e-1

DP
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QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

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

Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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FS
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SIO_000300: 1.235e0

MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Other
type: Population
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele num: 11578
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South Asian
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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allele num: 6614
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele num: 66738
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South Asian
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African
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allele frequency: 5.094194540561323e-2
allele num: 10404
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European (Finnish)
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Latino
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allele frequency: 3.022974607013301e-3
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Other
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BaseQRankSum
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VQSLOD
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MQ
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 6.42e-1

ClippingRankSum
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SIO_000300: -3.3e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 1.74e0

VQSLOD
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SIO_000300: 2.9e0

ReadPosRankSum
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SIO_000300: 4.4e-1

DP
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SIO_000300: 4.270738e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.09e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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bin: 1.25e1
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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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

MQ
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SIO_000300: 5.979e1

BaseQRankSum
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SIO_000300: 6.07e0

DP
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SIO_000300: 4.270335e6

InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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SIO_000300: 9.49e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

VQSLOD
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SIO_000300: 9.63e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.275e1

MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 4.2715e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

MQRankSum
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SIO_000300: 5.83e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 4.2715e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.270101e6

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
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allele count: 83
allele frequency: 7.976167595617912e-3
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East Asian
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
type: Population
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Latino
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East Asian
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European (Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 220

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 2.591121091725687e-3
allele num: 11578
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 186
allele frequency: 2.78693437219059e-3
allele num: 66740
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.282619e6

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 763
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 4.264251e6

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.135e0

FS
type: SiteQuality
SIO_000300: 3.583e0

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

MQRankSum
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SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.265022e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

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: 0

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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
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GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: -3.698e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.455e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.26414e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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: 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
all individuals: 5
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GenotypeQuality
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GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.174e1

FS
type: SiteQuality
SIO_000300: 4.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

BaseQRankSum
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SIO_000300: -4.205e0

DP
type: SiteQuality
SIO_000300: 4.264042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 4.264043e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -2.126e0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 6.0e1

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

BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
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: 6.056201550387597e-5
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num of homozygotes: 0

Other
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VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 4.26386e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
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SIO_000300: 4.26386e6

VQSLOD
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SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.971e0

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
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SIO_000300: -3.942e0

DP
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SIO_000300: 4.2637e6

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 1.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.2637e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.942e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.209e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.513e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.978e0

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

FS
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.378e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 4.262876e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 3.685e0

BaseQRankSum
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MQRankSum
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SIO_000300: -2.85e-1

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

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

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

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

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

African
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South Asian
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Other
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MQ
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DP
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: -3.54e-1

ReadPosRankSum
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SIO_000300: 6.32e-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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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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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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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

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

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

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

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

African
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allele frequency: 0.0e0
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East Asian
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8648
num of homozygotes: 0

Other
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allele num: 906
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Latino
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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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African
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South Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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FS
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DP
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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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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 8.650519031141869e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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MQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10402
num of homozygotes: 0

East Asian
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Latino
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 3.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 4.258813e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1285
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variant carriers: 0

GenotypeQuality
all individuals: 9310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
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GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25531
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

DP
type: SiteQuality
SIO_000300: 2.189136e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 1.109e0

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

GenotypeQuality
all individuals: 9316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25626
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.556e0

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.188926e6

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11427
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.084302325581395e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.128e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.18862e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

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

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

GenotypeQuality
all individuals: 9298
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25741
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 250
allele frequency: 2.406159769008662e-2
allele num: 10390
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.57030541276081e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 24
allele frequency: 2.654867256637168e-2
allele num: 904
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 842
allele frequency: 1.262633836187506e-2
allele num: 66686
num of homozygotes: 4

South Asian
type: Population
allele count: 498
allele frequency: 3.016353725015142e-2
allele num: 16510
num of homozygotes: 13

East Asian
type: Population
allele count: 32
allele frequency: 3.698566805362922e-3
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 118
allele frequency: 1.019878997407087e-2
allele num: 11570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

DP
type: SiteQuality
SIO_000300: 2.194637e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26113
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variant carriers: 0

GenotypeQuality
all individuals: 10384
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1914
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 3388
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.107349e6

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 26244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3173
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1915
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 10379
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.107121e6

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.345e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.611e0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4453
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26261
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variant carriers: 0

GenotypeQuality
all individuals: 1915
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variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 8.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.902e0

QD
type: SiteQuality
SIO_000300: 1.426e1

FS
type: SiteQuality
SIO_000300: 2.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.216e0

DP
type: SiteQuality
SIO_000300: 2.107002e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 4.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
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GenotypeQuality
all individuals: 3382
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GenotypeQuality
all individuals: 26278
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 4452
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 9465
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.627e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 2.107112e6

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 1915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 2.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.107029e6

VQSLOD
type: SiteQuality
SIO_000300: -6.818e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.107008e6

QD
type: SiteQuality
SIO_000300: 1.901e1

MQ
type: SiteQuality
SIO_000300: 4.977e1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: -4.148e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.106931e6

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 5.456e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.951e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.107261e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
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SIO_000300: 7.29e0

BaseQRankSum
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SIO_000300: -3.813e0