19-45873348-CCCCACCGGTCGAGTGGGCGGGTCGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873322
    reference: chr 19
allele count: 1
allele frequency: 8.83158173628897e-6
allele num: 113230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CCCCACCGGTCGAGTGGGCGGGTCGGG
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-45873356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873356
    reference: chr 19
allele count: 1
allele frequency: 8.754267705506434e-6
allele num: 114230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+438C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+35C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+438C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-45873358-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873358
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873358
    reference: chr 19
allele count: 3
allele frequency: 2.627108254374135e-5
allele num: 114194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+436G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+33G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+436G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

19-45873359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873359
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873359
    reference: chr 19
allele count: 1
allele frequency: 8.76531739214277e-6
allele num: 114086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+32C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+435C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+435C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+32C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-45873361-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873361
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873361
    reference: chr 19
allele count: 1
allele frequency: 8.7363712608331e-6
allele num: 114464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+433C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+433C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+30C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+30C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-45873366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873366
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873366
    reference: chr 19
allele count: 1
allele frequency: 8.729812309035356e-6
allele num: 114550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+428G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+428G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+25G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+25G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-45873367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873367
    reference: chr 19
allele count: 1
allele frequency: 8.709132396230688e-6
allele num: 114822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+427C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+427C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+24C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+24C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

19-45873367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873367
    reference: chr 19
allele count: 3
allele frequency: 2.612739718869206e-5
allele num: 114822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+427C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+427C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+24C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+24C>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24027
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

19-45873369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873369
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873369
    reference: chr 19
allele count: 1
allele frequency: 8.685984295740394e-6
allele num: 115128
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+425C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+22C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+425C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

19-45873374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873374
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873374
    reference: chr 19
allele count: 1
allele frequency: 8.62931897414656e-6
allele num: 115884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+420C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+420C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+17C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+17C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37149
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-45873376-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873376
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873376
    reference: chr 19
allele count: 1
allele frequency: 8.599931200550395e-6
allele num: 116280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+418G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+418G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+15G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+15G>C
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-45873380-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873380
    reference: chr 19
allele count: 7
allele frequency: 5.994074429278485e-5
allele num: 116782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+414G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+414G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+11G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+11G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18528
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-45873380-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873380
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873379
    reference: chr 19
allele count: 1
allele frequency: 8.562963470397836e-6
allele num: 116782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+413delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+10delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+413delC
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+10delC
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: CG
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

19-45873382-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873382
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873382
    reference: chr 19
allele count: 1
allele frequency: 8.539417953272305e-6
allele num: 117104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.33+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.33+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+412C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.105+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.33+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+412C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.33+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.105+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.105+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.33+9C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.105+9C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-45873395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873395
    reference: chr 19
allele count: 1
allele frequency: 8.42715566641947e-6
allele num: 118664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+399C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.101C>T
  hgvsp: ENSP00000375808.3:p.Ala34Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.29C>T
  hgvsp: ENSP00000431229.2:p.Ala10Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.101C>T
  hgvsp: ENSP00000221481.6:p.Ala34Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.101C>T
  hgvsp: ENSP00000465207.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.29C>T
  hgvsp: ENSP00000375804.4:p.Ala10Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.29C>T
  hgvsp: ENSP00000375805.2:p.Ala10Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.29C>T
  hgvsp: ENSP00000464887.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.101C>T
  hgvsp: ENSP00000375809.3:p.Ala34Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.29C>T
  hgvsp: ENSP00000466998.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+399C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-45873396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873396
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873396
    reference: chr 19
allele count: 1
allele frequency: 8.42034355001684e-6
allele num: 118760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.100G>A
  hgvsp: ENSP00000375809.3:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.28G>A
  hgvsp: ENSP00000431229.2:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.100G>A
  hgvsp: ENSP00000375808.3:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.100G>A
  hgvsp: ENSP00000465207.1:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.28G>A
  hgvsp: ENSP00000466998.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.100G>A
  hgvsp: ENSP00000221481.6:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.28G>A
  hgvsp: ENSP00000464887.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.28G>A
  hgvsp: ENSP00000375805.2:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+398G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+398G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.28G>A
  hgvsp: ENSP00000375804.4:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-45873400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873400
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873400
    reference: chr 19
allele count: 1
allele frequency: 8.391937026904549e-6
allele num: 119162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.24G>A
  hgvsp: ENST00000391941.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.24G>A
  hgvsp: ENST00000391940.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.24G>A
  hgvsp: ENST00000586856.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.96G>A
  hgvsp: ENST00000591309.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.24G>A
  hgvsp: ENST00000586131.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.24G>A
  hgvsp: ENST00000485403.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+394G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.96G>A
  hgvsp: ENST00000221481.6:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.96G>A
  hgvsp: ENST00000391945.4:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.96G>A
  hgvsp: ENST00000391944.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+394G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu32Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-45873404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873404
    reference: chr 19
allele count: 1
allele frequency: 8.367780697203488e-6
allele num: 119506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.92C>T
  hgvsp: ENSP00000375808.3:p.Thr31Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+390C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.20C>T
  hgvsp: ENSP00000375805.2:p.Thr7Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.20C>T
  hgvsp: ENSP00000375804.4:p.Thr7Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.20C>T
  hgvsp: ENSP00000466998.1:p.Thr7Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.20C>T
  hgvsp: ENSP00000431229.2:p.Thr7Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.92C>T
  hgvsp: ENSP00000375809.3:p.Thr31Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.92C>T
  hgvsp: ENSP00000465207.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+390C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.20C>T
  hgvsp: ENSP00000464887.1:p.Thr7Met
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.92C>T
  hgvsp: ENSP00000221481.6:p.Thr31Met
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr31Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

19-45873408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873408
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873408
    reference: chr 19
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.88C>T
  hgvsp: ENSP00000375809.3:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+386C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.88C>T
  hgvsp: ENSP00000221481.6:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.88C>T
  hgvsp: ENSP00000465207.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.16C>T
  hgvsp: ENSP00000431229.2:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.88C>T
  hgvsp: ENSP00000375808.3:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.16C>T
  hgvsp: ENSP00000466998.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.16C>T
  hgvsp: ENSP00000464887.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+386C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.16C>T
  hgvsp: ENSP00000375804.4:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.16C>T
  hgvsp: ENSP00000375805.2:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg30Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-45873410-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873410
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873410
    reference: chr 19
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.14A>C
  hgvsp: ENSP00000464887.1:p.Lys5Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+384A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.86A>C
  hgvsp: ENSP00000221481.6:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.86A>C
  hgvsp: ENSP00000375808.3:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+384A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.14A>C
  hgvsp: ENSP00000466998.1:p.Lys5Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.86A>C
  hgvsp: ENSP00000375809.3:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.14A>C
  hgvsp: ENSP00000375805.2:p.Lys5Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.86A>C
  hgvsp: ENSP00000465207.1:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.14A>C
  hgvsp: ENSP00000431229.2:p.Lys5Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.14A>C
  hgvsp: ENSP00000375804.4:p.Lys5Thr
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys29Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-45873417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873417
    reference: chr 19
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+377G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.79G>T
  hgvsp: ENSP00000375808.3:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.7G>T
  hgvsp: ENSP00000466998.1:p.Glu3Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.79G>T
  hgvsp: ENSP00000375809.3:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.7G>T
  hgvsp: ENSP00000375805.2:p.Glu3Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.79G>T
  hgvsp: ENSP00000221481.6:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.7G>T
  hgvsp: ENSP00000375804.4:p.Glu3Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.7G>T
  hgvsp: ENSP00000431229.2:p.Glu3Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.7G>T
  hgvsp: ENSP00000464887.1:p.Glu3Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.79G>T
  hgvsp: ENSP00000465207.1:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+377G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

19-45873419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873419
    reference: chr 19
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.77G>A
  hgvsp: ENSP00000375809.3:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+375G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.77G>A
  hgvsp: ENSP00000465207.1:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.5G>A
  hgvsp: ENSP00000431229.2:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.5G>A
  hgvsp: ENSP00000464887.1:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.5G>A
  hgvsp: ENSP00000375804.4:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.77G>A
  hgvsp: ENSP00000375808.3:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.5G>A
  hgvsp: ENSP00000375805.2:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.5G>A
  hgvsp: ENSP00000466998.1:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.77G>A
  hgvsp: ENSP00000221481.6:p.Arg26Gln
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+375G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20676
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg26Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-45873423-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873423
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873423
    reference: chr 19
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+371A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+371A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.73A>C
  hgvsp: ENSP00000221481.6:p.Met25Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.1A>C
  hgvsp: ENSP00000375805.2:p.Met1?
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.73A>C
  hgvsp: ENSP00000465207.1:p.Met25Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.73A>C
  hgvsp: ENSP00000375808.3:p.Met25Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.1A>C
  hgvsp: ENSP00000464887.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.1A>C
  hgvsp: ENSP00000431229.2:p.Met1?
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.1A>C
  hgvsp: ENSP00000375804.4:p.Met1?
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.73A>C
  hgvsp: ENSP00000375809.3:p.Met25Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.1A>C
  hgvsp: ENSP00000466998.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-45873428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873428
    reference: chr 19
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.68C>T
  hgvsp: ENSP00000375808.3:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.68C>T
  hgvsp: ENSP00000465207.1:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.68C>T
  hgvsp: ENSP00000221481.6:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+366C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+366C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.68C>T
  hgvsp: ENSP00000375809.3:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-5C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser23Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-45873433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873433
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873433
    reference: chr 19
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+361G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+361G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.63G>A
  hgvsp: ENST00000391945.4:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.63G>A
  hgvsp: ENST00000591309.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.63G>A
  hgvsp: ENST00000391944.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.63G>A
  hgvsp: ENST00000221481.6:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-10G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln21Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

19-45873435-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873435
    reference: chr 19
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-12C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.61C>G
  hgvsp: ENSP00000221481.6:p.Gln21Glu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-12C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+359C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.61C>G
  hgvsp: ENSP00000465207.1:p.Gln21Glu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-12C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.61C>G
  hgvsp: ENSP00000375808.3:p.Gln21Glu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+359C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.61C>G
  hgvsp: ENSP00000375809.3:p.Gln21Glu
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln21Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-45873437-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873437
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873437
    reference: chr 19
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-14A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-14A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.59A>C
  hgvsp: ENSP00000375809.3:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+357A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-14A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.59A>C
  hgvsp: ENSP00000221481.6:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.59A>C
  hgvsp: ENSP00000465207.1:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-14A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.59A>C
  hgvsp: ENSP00000375808.3:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-14A>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+357A>C
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu20Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-45873438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873438
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873438
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 120308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+356G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.58G>A
  hgvsp: ENSP00000221481.6:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.58G>A
  hgvsp: ENSP00000375809.3:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.58G>A
  hgvsp: ENSP00000375808.3:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-15G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.58G>A
  hgvsp: ENSP00000465207.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+356G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu20Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-45873439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873439
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873439
    reference: chr 19
allele count: 2
allele frequency: 1.662095902933599e-5
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+355C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.57C>T
  hgvsp: ENST00000591309.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.57C>T
  hgvsp: ENST00000391944.3:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.57C>T
  hgvsp: ENST00000391945.4:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.57C>T
  hgvsp: ENST00000221481.6:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-16C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+355C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro19Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-45873442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873442
    reference: chr 19
allele count: 3
allele frequency: 2.49297811165218e-5
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.54C>T
  hgvsp: ENST00000391945.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.54C>T
  hgvsp: ENST00000221481.6:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+352C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.54C>T
  hgvsp: ENST00000591309.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+352C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.54C>T
  hgvsp: ENST00000391944.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-19C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr18Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-45873804-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873804
    reference: chr 19
allele count: 2
allele frequency: 3.912669222943892e-5
allele num: 51116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.10G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.10G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.-6G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-381G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-78G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.-6G>C
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-45873449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873449
    reference: chr 19
allele count: 49
allele frequency: 4.071864249031894e-4
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+345A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.47A>G
  hgvsp: ENSP00000375808.3:p.Tyr16Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.47A>G
  hgvsp: ENSP00000465207.1:p.Tyr16Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.47A>G
  hgvsp: ENSP00000375809.3:p.Tyr16Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.47A>G
  hgvsp: ENSP00000221481.6:p.Tyr16Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+345A>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20928
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr16Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-45873451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873451
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873451
    reference: chr 19
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.45C>T
  hgvsp: ENST00000221481.6:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-28C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.45C>T
  hgvsp: ENST00000391944.3:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.45C>T
  hgvsp: ENST00000391945.4:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+343C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+343C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.45C>T
  hgvsp: ENST00000591309.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp15Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-45873459-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873459
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873459
    reference: chr 19
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.37C>A
  hgvsp: ENSP00000221481.6:p.Pro13Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.37C>A
  hgvsp: ENSP00000375809.3:p.Pro13Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-36C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.37C>A
  hgvsp: ENSP00000465207.1:p.Pro13Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-36C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.37C>A
  hgvsp: ENSP00000375808.3:p.Pro13Thr
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+335C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+335C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-36C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-36C>A
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro13Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

19-45873463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873463
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873463
    reference: chr 19
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-40C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.33C>T
  hgvsp: ENST00000591309.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.33C>T
  hgvsp: ENST00000391945.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+331C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+331C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.33C>T
  hgvsp: ENST00000391944.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-40C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.33C>T
  hgvsp: ENST00000221481.6:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-40C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr11Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-45873464-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873464
    reference: chr 19
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-41A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+330A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-41A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.32A>T
  hgvsp: ENSP00000375809.3:p.Tyr11Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.32A>T
  hgvsp: ENSP00000465207.1:p.Tyr11Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.32A>T
  hgvsp: ENSP00000375808.3:p.Tyr11Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.32A>T
  hgvsp: ENSP00000221481.6:p.Tyr11Phe
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-41A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-41A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+330A>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-41A>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr11Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-45873464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873464
    reference: chr 19
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.32A>G
  hgvsp: ENSP00000465207.1:p.Tyr11Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-41A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-41A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+330A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.32A>G
  hgvsp: ENSP00000221481.6:p.Tyr11Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.32A>G
  hgvsp: ENSP00000375808.3:p.Tyr11Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.32A>G
  hgvsp: ENSP00000375809.3:p.Tyr11Cys
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-41A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-41A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-41A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+330A>G
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr11Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-45873465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873465
    reference: chr 19
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-42T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.31T>C
  hgvsp: ENSP00000221481.6:p.Tyr11His
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.31T>C
  hgvsp: ENSP00000375809.3:p.Tyr11His
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-42T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.31T>C
  hgvsp: ENSP00000375808.3:p.Tyr11His
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+329T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.31T>C
  hgvsp: ENSP00000465207.1:p.Tyr11His
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+329T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-42T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-42T>C
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr11His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

19-45873469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873469
    reference: chr 19
allele count: 32
allele frequency: 2.668267627243013e-4
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.27G>A
  hgvsp: ENST00000221481.6:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+325G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-46G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.27G>A
  hgvsp: ENST00000391945.4:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.27G>A
  hgvsp: ENST00000591309.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+325G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.27G>A
  hgvsp: ENST00000391944.3:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20969
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu9Leu
num of homozygotes: 2
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-45873475-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873475
    reference: chr 19
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+319G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-52G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.21G>T
  hgvsp: ENST00000391944.3:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.21G>T
  hgvsp: ENST00000391945.4:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.21G>T
  hgvsp: ENST00000221481.6:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.21G>T
  hgvsp: ENST00000591309.1:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+319G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-52G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-52G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly7Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/19-45873477-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873477
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 119474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.19G>T
  hgvsp: ENSP00000465207.1:p.Gly7Trp
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.19G>T
  hgvsp: ENSP00000375808.3:p.Gly7Trp
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.19G>T
  hgvsp: ENSP00000221481.6:p.Gly7Trp
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-54G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-54G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.19G>T
  hgvsp: ENSP00000375809.3:p.Gly7Trp
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-54G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-54G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+317G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-54G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+317G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly7Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-45873483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873483
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873483
    reference: chr 19
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.13G>C
  hgvsp: ENSP00000375809.3:p.Val5Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-60G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+311G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.13G>C
  hgvsp: ENSP00000375808.3:p.Val5Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.13G>C
  hgvsp: ENSP00000465207.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-60G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+311G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.13G>C
  hgvsp: ENSP00000221481.6:p.Val5Leu
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-60G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-60G>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-60G>C
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val5Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-45873490-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873490
    reference: chr 19
allele count: 2
allele frequency: 1.699639676388606e-5
allele num: 117672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6G>T
  hgvsp: ENSP00000375808.3:p.Lys2Asn
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+304G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+304G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-67G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6G>T
  hgvsp: ENSP00000375809.3:p.Lys2Asn
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-67G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6G>T
  hgvsp: ENSP00000221481.6:p.Lys2Asn
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6G>T
  hgvsp: ENSP00000465207.1:p.Lys2Asn
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-67G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-45873495-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873495
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873495
    reference: chr 19
allele count: 3
allele frequency: 2.579092159559835e-5
allele num: 116320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+299G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+299G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-72G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-72G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-5G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-72G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.6-5G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-45873496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873496
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873496
    reference: chr 19
allele count: 6
allele frequency: 5.187977726282295e-5
allele num: 115652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-6C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-6C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-6C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-6C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-6C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+298C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+298C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-73C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-6C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.6-6C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-45873497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873497
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873497
    reference: chr 19
allele count: 5
allele frequency: 4.330204039214328e-5
allele num: 115468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+297C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-74C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-74C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-7C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-7C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-74C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-7C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-7C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-7C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+297C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-7C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.6-7C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

19-45873501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873501
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873501
    reference: chr 19
allele count: 1
allele frequency: 8.735150244584206e-6
allele num: 114480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+293C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+293C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-78C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-11C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-11C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-78C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-11C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-78C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-11C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-11C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-11C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-45873503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873503
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873503
    reference: chr 19
allele count: 1
allele frequency: 8.755494072530513e-6
allele num: 114214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-13C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-80C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-80C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-13C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-80C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-13C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+291C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-13C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-13C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+291C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-13C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-45873506-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873506
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873506
    reference: chr 19
allele count: 4
allele frequency: 3.526466128292838e-5
allele num: 113428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+288C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-16C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-83C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-16C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-16C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-16C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-16C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+288C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-83C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-83C>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-16C>G
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16126
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  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: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-45873507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873507
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873507
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 113290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-17G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-84G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-84G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-84G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-17G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+287G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-17G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-17G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+287G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-17G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-17G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-45873509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873509
    reference: chr 19
allele count: 1
allele frequency: 8.861477385509712e-6
allele num: 112848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-86C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+285C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-86C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+285C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-86C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-19C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-19C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-45873510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873510
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873510
    reference: chr 19
allele count: 1
allele frequency: 8.882414595583663e-6
allele num: 112582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-87C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-87C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-87C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+284C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-20C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+284C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-45873513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873513
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873513
    reference: chr 19
allele count: 1
allele frequency: 8.973438621679828e-6
allele num: 111440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-23G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-23G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-23G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-23G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+281G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-23G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+281G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-23G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-45873516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873516
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873516
    reference: chr 19
allele count: 1
allele frequency: 8.999604017423233e-6
allele num: 111116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-93A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+278A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-93A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-93A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+278A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-26A>G
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-26A>G
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-45873526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873526
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873526
    reference: chr 19
allele count: 1
allele frequency: 9.280570198232979e-6
allele num: 107752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-103G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-103G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-103G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+268G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-36G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+268G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-45873528-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873528
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873529
    reference: chr 19
allele count: 1
allele frequency: 9.274201027581474e-6
allele num: 107826
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+265dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-106dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-39dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-39dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-39dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-106dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+265dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-106dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-39dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-39dupT
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-39dupT
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-45873529-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873529
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873529
    reference: chr 19
allele count: 1
allele frequency: 9.263376315399436e-6
allele num: 107952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-39T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+265T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-39T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-106T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-106T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-39T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+265T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-106T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-39T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-39T>C
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-39T>C
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-45873535-TCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873531
    reference: chr 19
allele count: 1
allele frequency: 9.54653937947494e-6
allele num: 104750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-116_-113delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.6-49_6-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.6-49_6-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+255_20+258delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.6-49_6-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-67-49_-67-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-67-49_-67-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  hgvsc: ENST00000485403.2:c.-116_-113delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-116_-113delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.6-49_6-46delGGAG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+255_20+258delGGAG
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6753
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TCTCC
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-45873541-GCCTCCACAGTGCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873541
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873527
    reference: chr 19
allele count: 1
allele frequency: 9.583317361137732e-6
allele num: 104348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000431229
  ensembl transcript: ENST00000485403
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: GCCTCCACAGTGCCC
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-45873748-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873749
    reference: chr 19
allele count: 86
allele frequency: 2.109601138203405e-3
allele num: 40766
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-326dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-326dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-88dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+45dupG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+45dupG
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18487
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-45873748-A-ACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873750
    reference: chr 19
allele count: 1
allele frequency: 2.453024579306285e-5
allele num: 40766
alternate allele: ACC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+44_20+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-89_-88dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+44_-68+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-327_-326dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+44_5+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+44_5+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-327_-326dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+44_5+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+44_20+45dupGG
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+44_5+45dupGG
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-45873749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873749
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873749
    reference: chr 19
allele count: 13
allele frequency: 3.225646369907201e-4
allele num: 40302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-326G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-88G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-326G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+45G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+45G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25435
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-45873750-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873750
    reference: chr 19
allele count: 1
allele frequency: 2.43842965130456e-5
allele num: 41010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-327G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-89G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+44G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-327G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+44G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-45873760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873760
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 42618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-337G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-337G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-99G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+34G>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+34G>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26865
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-45873761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873761
    reference: chr 19
allele count: 1
allele frequency: 2.348851411659698e-5
allele num: 42574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-338C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-338C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+33C>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+33C>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-45873761-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873761
    reference: chr 19
allele count: 1
allele frequency: 2.348851411659698e-5
allele num: 42574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-338C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-338C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+33C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-100C>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-45873770-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873770
    reference: chr 19
allele count: 2
allele frequency: 4.551039912620033e-5
allele num: 43946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-347G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-109G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+24G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-347G>T
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+24G>T
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-45873773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45873773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 45873773
    reference: chr 19
allele count: 20
allele frequency: 4.4674767691208e-4
allele num: 44768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586441
  gene symbol: ERCC2
  hgvsc: ENST00000586441.1:n.20+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375805
  ensembl transcript: ENST00000391941
  gene symbol: ERCC2
  hgvsc: ENST00000391941.2:c.-350C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375809
  ensembl transcript: ENST00000391945
  gene symbol: ERCC2
  hgvsc: ENST00000391945.4:c.5+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000466998
  ensembl transcript: ENST00000586856
  gene symbol: ERCC2
  hgvsc: ENST00000586856.1:c.-350C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000464887
  ensembl transcript: ENST00000586131
  gene symbol: ERCC2
  hgvsc: ENST00000586131.1:c.-112C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375804
  ensembl transcript: ENST00000391940
  gene symbol: ERCC2
  hgvsc: ENST00000391940.4:c.-68+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000465207
  ensembl transcript: ENST00000591309
  gene symbol: ERCC2
  hgvsc: ENST00000591309.1:c.5+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000375808
  ensembl transcript: ENST00000391944
  gene symbol: ERCC2
  hgvsc: ENST00000391944.3:c.5+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl transcript: ENST00000586737
  gene symbol: ERCC2
  hgvsc: ENST00000586737.1:n.20+21C>A
  variant of: http://identifiers.org/hgnc/3434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104884
  ensembl protein: ENSP00000221481
  ensembl transcript: ENST00000221481
  gene symbol: ERCC2
  hgvsc: ENST00000221481.6:c.5+21C>A
  variant of: http://identifiers.org/hgnc/3434
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28035
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
reference allele: G

GenotypeQuality
all individuals: 4025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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: 6.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.231527093596059e-4
allele num: 8120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.077e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

DP
type: SiteQuality
SIO_000300: 1.360257e6

QD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596729897170594e-5
allele num: 62628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.397266e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.503e1

VQSLOD
type: SiteQuality
SIO_000300: -6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.225099601593625e-5
allele num: 16064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.193561779452623e-5
allele num: 62626
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 6.166e0

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 1.404555e6

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.060895395713983e-4
allele num: 9426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.049e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.409618e6

GenotypeQuality
all individuals: 1873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 978
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variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.081002542680712e-5
allele num: 11012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.417211e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.063e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.842e-1

DP
type: SiteQuality
SIO_000300: 1.436791e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.708e0

QD
type: SiteQuality
SIO_000300: 1.707e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588865232450984e-5
allele num: 62938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.444381e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2713
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 500
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variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.177730464901967e-5
allele num: 62938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.051745898190997e-4
allele num: 9508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.444381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.071e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 35277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 5715
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584585155606262e-5
allele num: 63108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.45138e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

FS
type: SiteQuality
SIO_000300: 3.136e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 5906
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2716
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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
all individuals: 1531
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.47662e6

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e0

FS
type: SiteQuality
SIO_000300: 3.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
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GenotypeQuality
all individuals: 38133
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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
all individuals: 2715
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56843062831331e-5
allele num: 63758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 5.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 5.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.388e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 1.487359e6

GenotypeQuality
all individuals: 638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 1520
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 970
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
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variant carriers: 1

GenotypeQuality
all individuals: 39563
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variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.076544425301501e-4
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122073056509522e-5
allele num: 64060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.505177e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
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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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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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variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561036528254761e-5
allele num: 64060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.505177e6

FS
type: SiteQuality
SIO_000300: 2.357e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.391e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 1.677e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.513451e6

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.547561e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.504e1

GenotypeDepth
all individuals: 365
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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
all individuals: 2715
bin: 9.75e1
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GenotypeQuality
all individuals: 1405
bin: 2.25e1
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GenotypeQuality
all individuals: 209
bin: 3.75e1
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GenotypeQuality
all individuals: 101
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

African
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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 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: 16384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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SIO_000300: 9.039999999999999e0

InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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SIO_000300: 5.825e0

BaseQRankSum
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SIO_000300: -1.203e0

MQRankSum
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SIO_000300: -8.799999999999999e-2

DP
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SIO_000300: 1.55007e6

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530643482520051e-5
allele num: 65332
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
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MQ
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SIO_000300: 5.963e1

FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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SIO_000300: 1.557376e6

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

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 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)
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allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

East Asian
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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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Latino
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FS
type: SiteQuality
SIO_000300: 9.51e-1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
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)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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SIO_000300: -5.13e-1

MQ
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.164144353899884e-4
allele num: 8590
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African
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Other
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South Asian
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DP
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.700191404210893e-5
allele num: 11494
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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DP
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65932
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Latino
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African
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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FS
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BaseQRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10304
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Latino
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Other
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DP
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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Other
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African
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European (Finnish)
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Latino
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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MQRankSum
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InbreedingCoeff
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QD
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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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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European (Finnish)
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Other
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6169
bin: 7.5e0
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GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.918649270913277e-4
allele num: 5212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.148614609571788e-4
allele num: 3176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.45612e5

QD
type: SiteQuality
SIO_000300: 7.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 2.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

MQ
type: SiteQuality
SIO_000300: 5.805e1

GenotypeDepth
all individuals: 631
bin: 4.75e1
variant carriers: 6

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 6

GenotypeDepth
all individuals: 126
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 49

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: 1590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 3.394762366634336e-3
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.062075654704171e-4
allele num: 16496
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.237e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 1.578869e6

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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: 7
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
all individuals: 45262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032876379958753e-5
allele num: 65944
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 2.172e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: -4.664e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 1.576848e6

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 6520
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 45182
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1576
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 974
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

GenotypeQuality
all individuals: 634
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.925e0

QD
type: SiteQuality
SIO_000300: 8.65e0

MQ
type: SiteQuality
SIO_000300: 5.781e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.692e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.575463e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1572
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variant carriers: 0

GenotypeQuality
all individuals: 975
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 6503
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 799
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
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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: 1543
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45040
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.573934e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.99e0

VQSLOD
type: SiteQuality
SIO_000300: -5.485e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 634
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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
all individuals: 8
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
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SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 1.573628e6

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

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: 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
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.28e-1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.573628e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-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
all individuals: 85
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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
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variant carriers: 0

GenotypeQuality
all individuals: 634
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GenotypeQuality
all individuals: 44977
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GenotypeQuality
all individuals: 492
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 8.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.379e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.573026e6

GenotypeQuality
all individuals: 6471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 9.75e1
variant carriers: 30

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.942926533090468e-3
allele num: 16470
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65708
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.571564e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.92e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.452e0

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

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.946e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -3.761e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.866e0

DP
type: SiteQuality
SIO_000300: 1.56508e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 2.704e0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 5.511e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 1.562876e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.749e0

QD
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534165874014298e-5
allele num: 65182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

FS
type: SiteQuality
SIO_000300: 1.532e0

DP
type: SiteQuality
SIO_000300: 1.552354e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.821e0

QD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeDepth
all individuals: 1786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 682
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variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 6118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.103662321539417e-5
allele num: 64440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 1.521591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 1458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37396
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5354
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 630
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GenotypeQuality
all individuals: 1276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.713275726630008e-5
allele num: 63650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.065e1

FS
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.482703e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 383
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GenotypeQuality
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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: 1683
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 485
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GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 630
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GenotypeQuality
all individuals: 1413
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GenotypeQuality
all individuals: 1591
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GenotypeQuality
all individuals: 781
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GenotypeQuality
all individuals: 1443
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GenotypeQuality
all individuals: 5531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 1
allele frequency: 6.181998021760633e-5
allele num: 16176
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5803280761086e-5
allele num: 63278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.618599601954044e-4
allele num: 11054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.459937e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 34901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.476473501733531e-4
allele num: 16152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.054690329590728e-5
allele num: 11044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.518e0

FS
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 3.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.454555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 1366
bin: 7.25e1
variant carriers: 0

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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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7815
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.16254352208173e-5
allele num: 10914
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.414315e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.382e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

GenotypeQuality
all individuals: 433
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600358480299587e-5
allele num: 62486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

DP
type: SiteQuality
SIO_000300: 1.403933e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.11e0

QD
type: SiteQuality
SIO_000300: 1.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 4

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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4862
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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: 1383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 937
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variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.448492664839594e-5
allele num: 62030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 9.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.368103e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 8.788e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.686e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
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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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bin: 2.25e1
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: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1964
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 625
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GenotypeQuality
all individuals: 931
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 9.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 1.358474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.307520476545048e-5
allele num: 10744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.334012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

FS
type: SiteQuality
SIO_000300: 2.884e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.462e0

ClippingRankSum
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SIO_000300: 2.46e0

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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.802e0

DP
type: SiteQuality
SIO_000300: 1.31807e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 6.79e0

GenotypeQuality
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bin: 4.25e1
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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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 327
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641227638273429e-5
allele num: 60930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.267385e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 3.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.297e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 1142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.278252134605726e-5
allele num: 15928
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.247987e6

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69848495142333e-5
allele num: 58876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.074e0

QD
type: SiteQuality
SIO_000300: 1.415e1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.163039e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2399
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111605157847932e-4
allele num: 8996
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 7.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.161164e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
all individuals: 11802
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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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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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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variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.694742907500932e-5
allele num: 59006
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.160259e6

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1086
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.748557440111908e-5
allele num: 57190
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.13172e6

BaseQRankSum
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SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.291e1

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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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753893643889434e-5
allele num: 57016
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.138295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.017293997965412e-3
allele num: 3932
num of homozygotes: 0

South Asian
type: Population
allele count: 71
allele frequency: 7.797056885569954e-3
allele num: 9106
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.162427157524743e-4
allele num: 21622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.92156862745098e-4
allele num: 2550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.571428571428571e-3
allele num: 280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 5.86335e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.125e1

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

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

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