http://identifiers.org/exac.variant/2-234637898-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637897
    reference: chr 2
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25437delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.127delA
  hgvsp: ENSP00000476805.1:p.Ser43AlafsTer23
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9566delA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11221delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-251delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15395delA
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35388delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35388delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35388delA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.127delA
  hgvsp: ENSP00000418532.1:p.Ser43AlafsTer23
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9566delA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15395delA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37781delA
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35388delA
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser43AlafsTer23
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: CA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-234637905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637905
    reference: chr 2
allele count: 518
allele frequency: 4.267378445619759e-3
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15401C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.133C>T
  hgvsp: ENSP00000476805.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35394C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25431C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11227C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9572C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-245C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35394C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9572C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.133C>T
  hgvsp: ENSP00000418532.1:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35394C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35394C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15401C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37775C>T
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
hgvs: p.Arg45Trp
num of homozygotes: 6
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-234637906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637906
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11228G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35395G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9573G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.134G>A
  hgvsp: ENSP00000418532.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35395G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-244G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15402G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.134G>A
  hgvsp: ENSP00000476805.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25430G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35395G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15402G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35395G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9573G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37774G>A
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg45Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-234637911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637911
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637911
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.139G>A
  hgvsp: ENSP00000418532.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15407G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.139G>A
  hgvsp: ENSP00000476805.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9578G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-239G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35400G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11233G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15407G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35400G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9578G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37769G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25425G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35400G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35400G>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val47Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234637912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637912
    reference: chr 2
allele count: 48024
allele frequency: 3.959240205777602e-1
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.140T>C
  hgvsp: ENSP00000476805.1:p.Val47Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35401T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9579T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.140T>C
  hgvsp: ENSP00000418532.1:p.Val47Ala
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35401T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25424T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35401T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15408T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15408T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9579T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11234T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-238T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35401T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37768T>C
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 7.25e1
  variant carriers: 3408
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 7.75e1
  variant carriers: 3251
genotype quality: GenotypeQuality
hgvs: p.Val47Ala
num of homozygotes: 10364
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-234637913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637913
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637913
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35402C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25423C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15409C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9580C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35402C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35402C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9580C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.141C>T
  hgvsp: ENST00000609767.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35402C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-237C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.141C>T
  hgvsp: ENST00000482026.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15409C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11235C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37767C>T
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val47Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-234637914-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637914
    reference: chr 2
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9581T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35403T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15410T>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11236T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25422T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35403T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.142T>G
  hgvsp: ENSP00000418532.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35403T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.142T>G
  hgvsp: ENSP00000476805.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37766T>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9581T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35403T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-236T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15410T>G
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu48Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-234637917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637917
    reference: chr 2
allele count: 232
allele frequency: 1.911226809898837e-3
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.145C>T
  hgvsp: ENSP00000418532.1:p.Arg49Trp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35406C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15413C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15413C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.145C>T
  hgvsp: ENSP00000476805.1:p.Arg49Trp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35406C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9584C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9584C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35406C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35406C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25419C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-233C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11239C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37763C>T
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Trp
num of homozygotes: 1
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-234637918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637918
    reference: chr 2
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15414G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9585G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35407G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11240G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.146G>A
  hgvsp: ENSP00000476805.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35407G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35407G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15414G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35407G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25418G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.146G>A
  hgvsp: ENSP00000418532.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9585G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37762G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-232G>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-234637919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637919
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15415G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.147G>A
  hgvsp: ENST00000482026.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15415G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35408G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11241G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35408G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25417G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35408G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.147G>A
  hgvsp: ENST00000609767.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35408G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37761G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9586G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-231G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9586G>A
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg49Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-234637922-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35411G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-228G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35411G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11244G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15418G>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15418G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9589G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.150G>C
  hgvsp: ENSP00000476805.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.150G>C
  hgvsp: ENSP00000418532.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35411G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37758G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35411G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9589G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25414G>C
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu50Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-234637922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25414G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35411G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35411G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15418G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35411G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35411G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.150G>A
  hgvsp: ENST00000609767.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-228G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9589G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.150G>A
  hgvsp: ENST00000482026.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11244G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37758G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15418G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9589G>A
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu50Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-234637922-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637922
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25414G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35411G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9589G>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15418G>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35411G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9589G>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.150G>T
  hgvsp: ENSP00000476805.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15418G>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.150G>T
  hgvsp: ENSP00000418532.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35411G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35411G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11244G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-228G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37758G>T
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu50Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-234637928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637928
    reference: chr 2
allele count: 55
allele frequency: 4.531000280098199e-4
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15424T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35417T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11250T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.156T>C
  hgvsp: ENST00000609767.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15424T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.156T>C
  hgvsp: ENST00000482026.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25408T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35417T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35417T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9595T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9595T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37752T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-222T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35417T>C
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His52His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234637932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637932
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25404A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11254A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35421A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35421A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.160A>G
  hgvsp: ENSP00000476805.1:p.Arg54Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.160A>G
  hgvsp: ENSP00000418532.1:p.Arg54Gly
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35421A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15428A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9599A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9599A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15428A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-218A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35421A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37748A>G
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg54Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-234637937-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637937
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35426C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.165C>A
  hgvsp: ENST00000609767.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25399C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35426C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-213C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35426C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.165C>A
  hgvsp: ENST00000482026.1:c.165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35426C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15433C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15433C>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9604C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9604C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11259C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37743C>A
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly55Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-234637941-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637942
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11264dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.170dupA
  hgvsp: ENSP00000418532.1:p.Ala58GlyfsTer31
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35431dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15438dupA
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35431dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25394dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.170dupA
  hgvsp: ENSP00000476805.1:p.Ala58GlyfsTer31
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35431dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35431dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9609dupA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9609dupA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-208dupA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15438dupA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37738dupA
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala58GlyfsTer31
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234637943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637943
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11265G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35432G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9610G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35432G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25393G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35432G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-207G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15439G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.171G>A
  hgvsp: ENST00000482026.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35432G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.171G>A
  hgvsp: ENST00000609767.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9610G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37737G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15439G>A
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln57Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-234637944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637944
    reference: chr 2
allele count: 21
allele frequency: 1.730246354123754e-4
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35433G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35433G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.172G>A
  hgvsp: ENSP00000418532.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35433G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15440G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25392G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.172G>A
  hgvsp: ENSP00000476805.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15440G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11266G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-206G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9611G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37736G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9611G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35433G>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala58Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
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: QD
site quality: DP

2-234637946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637946
    reference: chr 2
allele count: 16
allele frequency: 1.318282936475241e-4
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9613A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35435A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.174A>G
  hgvsp: ENST00000609767.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15442A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15442A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25390A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35435A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35435A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35435A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.174A>G
  hgvsp: ENST00000482026.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9613A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11268A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-204A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37734A>G
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala58Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-234637950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637950
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35439G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9617G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.178G>A
  hgvsp: ENSP00000418532.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35439G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35439G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.178G>A
  hgvsp: ENSP00000476805.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35439G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25386G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-200G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15446G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15446G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9617G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11272G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37730G>A
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val60Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-234637952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637952
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637952
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9619C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9619C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15448C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35441C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.180C>T
  hgvsp: ENST00000482026.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35441C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35441C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15448C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.180C>T
  hgvsp: ENST00000609767.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11274C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-198C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37728C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35441C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25384C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val60Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-234637956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637956
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-194A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15452A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35445A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35445A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9623A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35445A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.184A>G
  hgvsp: ENSP00000476805.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35445A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25380A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15452A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9623A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11278A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.184A>G
  hgvsp: ENSP00000418532.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37724A>G
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr62Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-234637957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637957
    reference: chr 2
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35446C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35446C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.185C>T
  hgvsp: ENSP00000418532.1:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15453C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.185C>T
  hgvsp: ENSP00000476805.1:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35446C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9624C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35446C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25379C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11279C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-193C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37723C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9624C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15453C>T
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr62Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

2-234637958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637958
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35447C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25378C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.186C>G
  hgvsp: ENST00000482026.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11280C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15454C>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35447C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15454C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.186C>G
  hgvsp: ENST00000609767.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35447C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9625C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-192C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9625C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35447C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37722C>G
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr62Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-234637960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637960
    reference: chr 2
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15456C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35449C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.188C>T
  hgvsp: ENSP00000418532.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35449C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35449C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15456C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.188C>T
  hgvsp: ENSP00000476805.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9627C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25376C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-190C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9627C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37720C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35449C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11282C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro63Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-234637972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637972
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637972
    reference: chr 2
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.200T>C
  hgvsp: ENSP00000476805.1:p.Met67Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35461T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35461T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35461T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25364T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15468T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35461T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.200T>C
  hgvsp: ENSP00000418532.1:p.Met67Thr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-178T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15468T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11294T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9639T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37708T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9639T>C
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met67Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-234637973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637973
    reference: chr 2
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35462G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-177G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35462G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.201G>A
  hgvsp: ENSP00000476805.1:p.Met67Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.201G>A
  hgvsp: ENSP00000418532.1:p.Met67Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25363G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9640G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9640G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35462G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37707G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15469G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15469G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11295G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35462G>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met67Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-234637974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637974
    reference: chr 2
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35463C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15470C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9641C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.202C>T
  hgvsp: ENSP00000476805.1:p.His68Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35463C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35463C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-176C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9641C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.202C>T
  hgvsp: ENSP00000418532.1:p.His68Tyr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15470C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25362C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11296C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37706C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35463C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His68Tyr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

2-234637983-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637983
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637983
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35472G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35472G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15479G>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15479G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25353G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.211G>C
  hgvsp: ENSP00000418532.1:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.211G>C
  hgvsp: ENSP00000476805.1:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35472G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35472G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9650G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11305G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37697G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-167G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9650G>C
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu71Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

2-234637988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637988
    reference: chr 2
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25348G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11310G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35477G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.216G>T
  hgvsp: ENSP00000418532.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35477G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35477G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.216G>T
  hgvsp: ENSP00000476805.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-162G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15484G>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9655G>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35477G>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9655G>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15484G>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37692G>T
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu72Asp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-234637991-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637991
    reference: chr 2
allele count: 18
allele frequency: 1.483924154987634e-4
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.219C>A
  hgvsp: ENSP00000476805.1:p.Asn73Lys
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.219C>A
  hgvsp: ENSP00000418532.1:p.Asn73Lys
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35480C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35480C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35480C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15487C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9658C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11313C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25345C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15487C>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35480C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-159C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9658C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37689C>A
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn73Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-234637996-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637996
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637996
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9663T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35485T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35485T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35485T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-154T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.224T>A
  hgvsp: ENSP00000418532.1:p.Phe75Tyr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15492T>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25340T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15492T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.224T>A
  hgvsp: ENSP00000476805.1:p.Phe75Tyr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35485T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37684T>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9663T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11318T>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe75Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-234637999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234637999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234637999
    reference: chr 2
allele count: 6
allele frequency: 4.946821667078902e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.227C>T
  hgvsp: ENSP00000476805.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.227C>T
  hgvsp: ENSP00000418532.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11321C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35488C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35488C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25337C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9666C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15495C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-151C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35488C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37681C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9666C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35488C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15495C>T
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-234638000-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638000
    reference: chr 2
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35489C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9667C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25336C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15496C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35489C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.228C>A
  hgvsp: ENST00000609767.1:c.228C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-150C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15496C>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35489C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.228C>A
  hgvsp: ENST00000482026.1:c.228C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11322C>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9667C>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37680C>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35489C>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

2-234638001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638001
    reference: chr 2
allele count: 17
allele frequency: 1.401576361177984e-4
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-149C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.229C>T
  hgvsp: ENST00000609767.1:c.229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35490C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25335C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.229C>T
  hgvsp: ENST00000482026.1:c.229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35490C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15497C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15497C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35490C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9668C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11323C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9668C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37679C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35490C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu77Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-234638005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638005
    reference: chr 2
allele count: 187
allele frequency: 1.54247158387911e-3
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15501C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25331C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35494C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9672C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.233C>T
  hgvsp: ENSP00000476805.1:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35494C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.233C>T
  hgvsp: ENSP00000418532.1:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35494C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35494C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11327C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15501C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9672C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-145C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37675C>T
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr78Ile
num of homozygotes: 2
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-234638006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638006
    reference: chr 2
allele count: 2783
allele frequency: 2.295257731958763e-2
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15502A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35495A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35495A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35495A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.234A>G
  hgvsp: ENST00000482026.1:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9673A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-144A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11328A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35495A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25330A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.234A>G
  hgvsp: ENST00000609767.1:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9673A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37674A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15502A>G
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 9.75e1
  variant carriers: 2273
genotype quality: GenotypeQuality
hgvs: p.Thr78Thr
num of homozygotes: 56
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-234638007-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638007
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638007
    reference: chr 2
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25329A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15503A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35496A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15503A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35496A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-143A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35496A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9674A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9674A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.235A>G
  hgvsp: ENSP00000476805.1:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.235A>G
  hgvsp: ENSP00000418532.1:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35496A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11329A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37673A>G
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

2-234638007-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638007
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638007
    reference: chr 2
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15503A>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25329A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.235A>T
  hgvsp: ENSP00000418532.1:p.Thr79Ser
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.235A>T
  hgvsp: ENSP00000476805.1:p.Thr79Ser
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35496A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35496A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35496A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-143A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35496A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9674A>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15503A>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11329A>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9674A>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37673A>T
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-234638008-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638008
    reference: chr 2
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35497C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11330C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9675C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35497C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25328C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.236C>G
  hgvsp: ENSP00000476805.1:p.Thr79Ser
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15504C>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9675C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35497C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.236C>G
  hgvsp: ENSP00000418532.1:p.Thr79Ser
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35497C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15504C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-142C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37672C>G
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-234638009-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638009
    reference: chr 2
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9676C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35498C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.237C>G
  hgvsp: ENST00000482026.1:c.237C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15505C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15505C>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.237C>G
  hgvsp: ENST00000609767.1:c.237C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37671C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35498C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9676C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35498C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-141C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35498C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11331C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25327C>G
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/2-234638011-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638011
    reference: chr 2
allele count: 5
allele frequency: 4.123915410247105e-5
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9678A>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-139A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35500A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.239A>C
  hgvsp: ENSP00000476805.1:p.Tyr80Ser
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9678A>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15507A>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35500A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25325A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35500A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11333A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15507A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35500A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37669A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.239A>C
  hgvsp: ENSP00000418532.1:p.Tyr80Ser
  variant of: http://identifiers.org/hgnc/12535
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr80Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-234638020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638020
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.248C>T
  hgvsp: ENSP00000476805.1:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-130C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35509C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35509C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15516C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9687C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35509C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.248C>T
  hgvsp: ENSP00000418532.1:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15516C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25316C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11342C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35509C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37660C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9687C>T
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-234638021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638021
    reference: chr 2
allele count: 11
allele frequency: 9.077555331825909e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25315G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35510G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35510G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.249G>A
  hgvsp: ENST00000609767.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11343G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15517G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.249G>A
  hgvsp: ENST00000482026.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9688G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35510G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15517G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35510G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9688G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37659G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-129G>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Ser
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: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-234638027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638027
    reference: chr 2
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35516C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11349C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9694C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35516C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35516C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25309C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.255C>T
  hgvsp: ENST00000609767.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.255C>T
  hgvsp: ENST00000482026.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-123C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15523C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9694C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15523C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35516C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37653C>T
  variant of: http://identifiers.org/hgnc/12539
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr85Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-234638028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638028
    reference: chr 2
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35517C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9695C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15524C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25308C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-122C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9695C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.256C>T
  hgvsp: ENSP00000418532.1:p.Gln86Ter
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15524C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35517C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.256C>T
  hgvsp: ENSP00000476805.1:p.Gln86Ter
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35517C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11350C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37652C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35517C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln86Ter
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-234638043-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638043
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15539C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11365C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-107C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.271C>G
  hgvsp: ENSP00000418532.1:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35532C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.271C>G
  hgvsp: ENSP00000476805.1:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35532C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9710C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25293C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35532C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9710C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35532C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37637C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15539C>G
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg91Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234638043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638043
    reference: chr 2
allele count: 5
allele frequency: 4.129160128829796e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.271C>T
  hgvsp: ENSP00000476805.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25293C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9710C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.271C>T
  hgvsp: ENSP00000418532.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35532C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35532C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15539C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15539C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-107C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9710C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11365C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35532C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35532C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37637C>T
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg91Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-234638044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638044
    reference: chr 2
allele count: 33
allele frequency: 2.724840638108135e-4
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35533G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15540G>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.272G>A
  hgvsp: ENSP00000418532.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15540G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9711G>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.272G>A
  hgvsp: ENSP00000476805.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25292G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35533G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35533G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11366G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35533G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-106G>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37636G>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9711G>A
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg91His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-234638052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638052
    reference: chr 2
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35541C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11374C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35541C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35541C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35541C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9719C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.280C>T
  hgvsp: ENST00000482026.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15548C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9719C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-98C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25284C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.280C>T
  hgvsp: ENST00000609767.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15548C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37628C>T
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu94Leu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-234638064-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638064
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11386C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.292C>G
  hgvsp: ENSP00000476805.1:p.Gln98Glu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15560C>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35553C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-86C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.292C>G
  hgvsp: ENSP00000418532.1:p.Gln98Glu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25272C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9731C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35553C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35553C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35553C>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9731C>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37616C>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15560C>G
  variant of: http://identifiers.org/hgnc/12540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln98Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-234638070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638070
    reference: chr 2
allele count: 2
allele frequency: 1.651391297167864e-5
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.298T>C
  hgvsp: ENSP00000476805.1:p.Tyr100His
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25266T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-80T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15566T>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35559T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.298T>C
  hgvsp: ENSP00000418532.1:p.Tyr100His
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11392T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35559T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9737T>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35559T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35559T>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15566T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37610T>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9737T>C
  variant of: http://identifiers.org/hgnc/12536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr100His
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-234638072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638072
    reference: chr 2
allele count: 24
allele frequency: 1.982029598308668e-4
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35561C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35561C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15568C>T
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.300C>T
  hgvsp: ENST00000609767.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9739C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37608C>T
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35561C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.300C>T
  hgvsp: ENST00000482026.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-78C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35561C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9739C>T
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15568C>T
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11394C>T
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25264C>T
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
hgvs: p.Tyr100Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-234638075-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638075
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638075
    reference: chr 2
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11397T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15571T>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35564T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.303T>G
  hgvsp: ENSP00000476805.1:p.Phe101Leu
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35564T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25261T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15571T>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9742T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.303T>G
  hgvsp: ENSP00000418532.1:p.Phe101Leu
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35564T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9742T>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37605T>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-75T>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35564T>G
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe101Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-234638080-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638078
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25254_187-25253delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-68_182-67delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9749_867+9750delGA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35571_861+35572delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15578_867+15579delGA
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9749_867+9750delGA
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35571_60+35572delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35571_60+35572delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35571_60+35572delGA
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.310_311delGA
  hgvsp: ENSP00000476805.1:p.Glu104ThrfsTer22
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.310_311delGA
  hgvsp: ENSP00000418532.1:p.Glu104ThrfsTer22
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15578_867+15579delGA
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37598_856-37597delGA
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11404_*237+11405delGA
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu104ThrfsTer22
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: CAG
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-234638098-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638098
    reference: chr 2
allele count: 3
allele frequency: 2.475574333245313e-5
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.326A>C
  hgvsp: ENSP00000476805.1:p.Lys109Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35587A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15594A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35587A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9765A>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.326A>C
  hgvsp: ENSP00000418532.1:p.Lys109Thr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15594A>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25238A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35587A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-52A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35587A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9765A>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11420A>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37582A>C
  variant of: http://identifiers.org/hgnc/12541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys109Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-234638100-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638100
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35589T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35589T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9767T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15596T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11422T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.328T>A
  hgvsp: ENSP00000418532.1:p.Phe110Ile
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35589T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-50T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.328T>A
  hgvsp: ENSP00000476805.1:p.Phe110Ile
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25236T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35589T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9767T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37580T>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15596T>A
  variant of: http://identifiers.org/hgnc/12537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe110Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-234638109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638109
    reference: chr 2
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15605A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9776A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35598A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15605A>G
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.337A>G
  hgvsp: ENSP00000476805.1:p.Ser113Gly
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.337A>G
  hgvsp: ENSP00000418532.1:p.Ser113Gly
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35598A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25227A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-41A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35598A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37571A>G
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11431A>G
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9776A>G
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35598A>G
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser113Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-234638110-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638110
    reference: chr 2
allele count: 21
allele frequency: 1.732073043994655e-4
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.338G>C
  hgvsp: ENSP00000476805.1:p.Ser113Thr
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35599G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15606G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35599G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11432G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35599G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15606G>C
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9777G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25226G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-40G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.338G>C
  hgvsp: ENSP00000418532.1:p.Ser113Thr
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9777G>C
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35599G>C
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37570G>C
  variant of: http://identifiers.org/hgnc/12531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser113Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-234638111-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234638111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234638111
    reference: chr 2
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476805
  ensembl transcript: ENST00000609767
  gene symbol: UGT1A8
  hgvsc: ENST00000609767.1:c.339T>A
  hgvsp: ENSP00000476805.1:p.Ser113Arg
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000362549
  ensembl transcript: ENST00000373450
  gene symbol: UGT1A8
  hgvsc: ENST00000373450.4:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000303174
  ensembl transcript: ENST00000305139
  gene symbol: UGT1A6
  hgvsc: ENST00000305139.6:c.861+35600T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000362523
  ensembl transcript: ENST00000373424
  gene symbol: UGT1A6
  hgvsc: ENST00000373424.1:c.60+35600T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000343838
  ensembl transcript: ENST00000344644
  gene symbol: UGT1A10
  hgvsc: ENST00000344644.5:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000362508
  ensembl transcript: ENST00000373409
  gene symbol: UGT1A4
  hgvsc: ENST00000373409.3:c.867+9778T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000477394
  ensembl transcript: ENST00000608381
  gene symbol: UGT1A8
  hgvsc: ENST00000608381.1:c.867+15607T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244474
  ensembl protein: ENSP00000408608
  ensembl transcript: ENST00000450233
  gene symbol: UGT1A4
  hgvsc: ENST00000450233.1:c.867+9778T>A
  variant of: http://identifiers.org/hgnc/12536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000241119
  ensembl protein: ENSP00000346768
  ensembl transcript: ENST00000354728
  gene symbol: UGT1A9
  hgvsc: ENST00000354728.4:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240224
  ensembl protein: ENSP00000362513
  ensembl transcript: ENST00000373414
  gene symbol: UGT1A5
  hgvsc: ENST00000373414.3:c.867+15607T>A
  variant of: http://identifiers.org/hgnc/12537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000241635
  ensembl protein: ENSP00000476286
  ensembl transcript: ENST00000609637
  gene symbol: UGT1A8
  hgvsc: ENST00000609637.1:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244122
  ensembl protein: ENSP00000362525
  ensembl transcript: ENST00000373426
  gene symbol: UGT1A7
  hgvsc: ENST00000373426.3:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12539
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000480628
  gene symbol: UGT1A6
  hgvsc: ENST00000480628.1:n.187-25225T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000386107
  ensembl transcript: ENST00000406651
  gene symbol: UGT1A6
  hgvsc: ENST00000406651.1:c.60+35600T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000243135
  ensembl protein: ENSP00000418532
  ensembl transcript: ENST00000482026
  gene symbol: UGT1A3
  hgvsc: ENST00000482026.1:c.339T>A
  hgvsp: ENSP00000418532.1:p.Ser113Arg
  variant of: http://identifiers.org/hgnc/12535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000401541
  ensembl transcript: ENST00000446481
  gene symbol: UGT1A6
  hgvsc: ENST00000446481.2:c.60+35600T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl transcript: ENST00000478062
  gene symbol: UGT1A6
  hgvsc: ENST00000478062.2:n.182-39T>A
  variant of: http://identifiers.org/hgnc/12538
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242515
  ensembl protein: ENSP00000362544
  ensembl transcript: ENST00000373445
  gene symbol: UGT1A10
  hgvsc: ENST00000373445.1:c.856-37569T>A
  variant of: http://identifiers.org/hgnc/12531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167165
  ensembl protein: ENSP00000419780
  ensembl transcript: ENST00000484784
  gene symbol: UGT1A6
  hgvsc: ENST00000484784.2:c.*237+11433T>A
  variant of: http://identifiers.org/hgnc/12538
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser113Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

GenotypeDepth
all individuals: 1133
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3709
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2787
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4828
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4090
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2509
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5584
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5630
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4992
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6043
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6130
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4371
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1409
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1820
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48487
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.845e0

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 3.669837e6

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 6.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.665e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

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

GenotypeDepth
all individuals: 2520
bin: 8.25e1
variant carriers: 39

GenotypeDepth
all individuals: 4982
bin: 6.75e1
variant carriers: 41

GenotypeDepth
all individuals: 4113
bin: 7.25e1
variant carriers: 44

GenotypeDepth
all individuals: 5576
bin: 6.25e1
variant carriers: 38

GenotypeDepth
all individuals: 1437
bin: 9.25e1
variant carriers: 37

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1127
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2297
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2784
bin: 3.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1881
bin: 8.75e1
variant carriers: 30

GenotypeDepth
all individuals: 3686
bin: 3.75e1
variant carriers: 10

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5605
bin: 4.75e1
variant carriers: 20

GenotypeDepth
all individuals: 4428
bin: 9.75e1
variant carriers: 101

GenotypeDepth
all individuals: 3186
bin: 7.75e1
variant carriers: 47

GenotypeDepth
all individuals: 4801
bin: 4.25e1
variant carriers: 12

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48550
bin: 9.75e1
variant carriers: 509

GenotypeQuality
all individuals: 1071
bin: 8.75e1
variant carriers: 2

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 1.999272991639404e-3
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 347
allele frequency: 4.010633379565418e-2
allele num: 8652
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 9.591751094059109e-4
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.7643400138217e-3
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 36
allele frequency: 5.442999697611128e-3
allele num: 6614
num of homozygotes: 1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 3.67777e6

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeDepth
all individuals: 5634
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4366
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2499
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2307
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4983
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4826
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6055
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4096
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5593
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.492e1

VQSLOD
type: SiteQuality
SIO_000300: -4.056e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.516e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 3.669588e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeDepth
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2800
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4366
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6054
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2319
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3167
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5595
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4098
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4981
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6112
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2499
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4828
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

MQ
type: SiteQuality
SIO_000300: 5.467e1

DP
type: SiteQuality
SIO_000300: 3.669737e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

GenotypeDepth
all individuals: 3512
bin: 8.25e1
variant carriers: 2949

GenotypeDepth
all individuals: 4846
bin: 6.75e1
variant carriers: 3352

GenotypeDepth
all individuals: 3592
bin: 4.25e1
variant carriers: 1244

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4944
bin: 5.75e1
variant carriers: 2637

GenotypeDepth
all individuals: 1832
bin: 2.75e1
variant carriers: 312

GenotypeDepth
all individuals: 4622
bin: 5.25e1
variant carriers: 2051

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 49

GenotypeDepth
all individuals: 5043
bin: 6.25e1
variant carriers: 3120

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 2787
bin: 3.75e1
variant carriers: 839

GenotypeDepth
all individuals: 2914
bin: 8.75e1
variant carriers: 2520

GenotypeDepth
all individuals: 909
bin: 2.25e1
variant carriers: 123

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

GenotypeDepth
all individuals: 8256
bin: 9.75e1
variant carriers: 7478

GenotypeDepth
all individuals: 2392
bin: 9.25e1
variant carriers: 2083

GenotypeDepth
all individuals: 4244
bin: 4.75e1
variant carriers: 1689

GenotypeDepth
all individuals: 2094
bin: 3.25e1
variant carriers: 558

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 690
bin: 7.25e1
variant carriers: 26

GenotypeQuality
all individuals: 2482
bin: 6.25e1
variant carriers: 19

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1009
bin: 8.25e1
variant carriers: 56

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 47

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 46

GenotypeQuality
all individuals: 52132
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variant carriers: 37324

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1114
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variant carriers: 54

GenotypeQuality
all individuals: 1270
bin: 6.75e1
variant carriers: 32

East Asian
type: Population
allele count: 1041
allele frequency: 1.205977757182577e-1
allele num: 8632
num of homozygotes: 60

African
type: Population
allele count: 6969
allele frequency: 6.69838523644752e-1
allele num: 10404
num of homozygotes: 2365

European (Non-Finnish)
type: Population
allele count: 25787
allele frequency: 3.867160553072793e-1
allele num: 66682
num of homozygotes: 5029

European (Finnish)
type: Population
allele count: 2881
allele frequency: 4.363829142684035e-1
allele num: 6602
num of homozygotes: 638

Other
type: Population
allele count: 348
allele frequency: 3.841059602649007e-1
allele num: 906
num of homozygotes: 73

Latino
type: Population
allele count: 3929
allele frequency: 3.397613282601176e-1
allele num: 11564
num of homozygotes: 680

South Asian
type: Population
allele count: 7069
allele frequency: 4.282685084211802e-1
allele num: 16506
num of homozygotes: 1519

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 2.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.962e1

MQ
type: SiteQuality
SIO_000300: 5.423e1

MQRankSum
type: SiteQuality
SIO_000300: -2.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

DP
type: SiteQuality
SIO_000300: 4.10889e6

GenotypeDepth
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1449
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7111
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4481
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variant carriers: 0

GenotypeDepth
all individuals: 4776
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variant carriers: 0

GenotypeDepth
all individuals: 3751
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2672
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2212
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 93
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variant carriers: 0

GenotypeDepth
all individuals: 2820
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeDepth
all individuals: 4742
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variant carriers: 0

GenotypeDepth
all individuals: 4846
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variant carriers: 0

GenotypeDepth
all individuals: 3221
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variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2888
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variant carriers: 0

GenotypeDepth
all individuals: 4275
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 2169
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variant carriers: 0

GenotypeQuality
all individuals: 1352
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variant carriers: 0

GenotypeQuality
all individuals: 919
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 67
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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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variant carriers: 0

GenotypeQuality
all individuals: 1134
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 47302
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variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 3.91115e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

QD
type: SiteQuality
SIO_000300: 1.49e1

FS
type: SiteQuality
SIO_000300: 6.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.779e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.45e1

GenotypeDepth
all individuals: 4776
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2212
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3746
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
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variant carriers: 0

GenotypeDepth
all individuals: 7111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3438
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2672
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2888
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4276
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variant carriers: 1

GenotypeDepth
all individuals: 3853
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variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeDepth
all individuals: 1454
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 4741
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variant carriers: 0

GenotypeDepth
all individuals: 2819
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3221
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variant carriers: 0

GenotypeDepth
all individuals: 4481
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variant carriers: 1

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 1132
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 1447
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 920
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variant carriers: 0

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

GenotypeQuality
all individuals: 4610
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 2168
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 47302
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 9.568e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 3.911121e6

VQSLOD
type: SiteQuality
SIO_000300: -1.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

GenotypeDepth
all individuals: 4744
bin: 6.75e1
variant carriers: 24

GenotypeDepth
all individuals: 7119
bin: 9.75e1
variant carriers: 45

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4481
bin: 5.25e1
variant carriers: 16

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 2888
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 4778
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variant carriers: 18

GenotypeDepth
all individuals: 2823
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2206
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variant carriers: 6

GenotypeDepth
all individuals: 4006
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variant carriers: 12

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 3852
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variant carriers: 18

GenotypeDepth
all individuals: 4280
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variant carriers: 17

GenotypeDepth
all individuals: 3437
bin: 4.25e1
variant carriers: 9

GenotypeDepth
all individuals: 2675
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variant carriers: 14

GenotypeDepth
all individuals: 3225
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variant carriers: 23

GenotypeDepth
all individuals: 1450
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variant carriers: 2

GenotypeDepth
all individuals: 4842
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variant carriers: 18

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 1469
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 919
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4604
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 2159
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1128
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variant carriers: 0

GenotypeQuality
all individuals: 47311
bin: 9.75e1
variant carriers: 231

GenotypeQuality
all individuals: 1350
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variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.774706288873532e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.44693223031502e-4
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 193
allele frequency: 1.854699211993081e-2
allele num: 10406
num of homozygotes: 1

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.484e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 3.911799e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 2819
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variant carriers: 0

GenotypeDepth
all individuals: 1466
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variant carriers: 0

GenotypeDepth
all individuals: 61
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variant carriers: 0

GenotypeDepth
all individuals: 7109
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variant carriers: 1

GenotypeDepth
all individuals: 3737
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 4645
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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
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
all individuals: 1134
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 2171
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variant carriers: 0

GenotypeQuality
all individuals: 1471
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.498e1

BaseQRankSum
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DP
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SIO_000300: 3.910328e6

QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 2.36e-1

VQSLOD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 38
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4616
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele num: 6614
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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African
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VQSLOD
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East Asian
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Latino
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FS
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MQ
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VQSLOD
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DP
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African
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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European (Finnish)
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East Asian
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FS
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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QD
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DP
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VQSLOD
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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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African
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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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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DP
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MQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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DP
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InbreedingCoeff
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FS
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MQ
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QD
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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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South Asian
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East Asian
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European (Non-Finnish)
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DP
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FS
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VQSLOD
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QD
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MQ
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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African
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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Latino
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.399232245681382e-4
allele num: 66688
num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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African
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allele frequency: 1.720492118415994e-2
allele num: 10404
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East Asian
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Latino
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allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele num: 16416
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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SIO_000300: 3.910409e6

VQSLOD
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SIO_000300: 1.02e0

ClippingRankSum
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SIO_000300: -1.63e-1

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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variant carriers: 16

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2727

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

Latino
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allele count: 171
allele frequency: 1.477449455676516e-2
allele num: 11574
num of homozygotes: 3

African
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allele count: 92
allele frequency: 8.842752787389465e-3
allele num: 10404
num of homozygotes: 4

European (Finnish)
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allele count: 77
allele frequency: 1.164197157544602e-2
allele num: 6614
num of homozygotes: 0

Other
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allele count: 16
allele frequency: 1.762114537444934e-2
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2389
allele frequency: 3.583213342932565e-2
allele num: 66672
num of homozygotes: 49

South Asian
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allele count: 37
allele frequency: 2.252800779347296e-3
allele num: 16424
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BaseQRankSum
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SIO_000300: -8.47e-1

VQSLOD
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SIO_000300: 1.68e0

QD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 5.06e-1

MQ
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SIO_000300: 5.864e1

DP
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SIO_000300: 4.064212e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

African
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South Asian
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East Asian
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Other
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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allele frequency: 8.640055296353897e-5
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num of homozygotes: 0

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

East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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FS
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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European (Finnish)
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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Other
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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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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European (Non-Finnish)
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East Asian
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South Asian
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QD
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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DP
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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MQ
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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African
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MQ
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VQSLOD
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ClippingRankSum
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QD
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FS
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GenotypeQuality
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East Asian
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African
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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African
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South Asian
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East Asian
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FS
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QD
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MQ
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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FS
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QD
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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African
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South Asian
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European (Finnish)
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Latino
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DP
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FS
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VQSLOD
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