14-105715958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715958
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715958
    reference: chr 14
allele count: 7
allele frequency: 6.204463668433461e-5
allele num: 112822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-19C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-19C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2886G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2886G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2886G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-19C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8207G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-19C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-19C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2886G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-19C>G
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-105715959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715959
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715959
    reference: chr 14
allele count: 1
allele frequency: 8.832049742104147e-6
allele num: 113224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-18G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2885C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-18G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-18G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2885C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8208C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-18G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2885C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-18G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2885C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-18G>A
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-105715960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715960
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715960
    reference: chr 14
allele count: 2
allele frequency: 1.763512917732122e-5
allele num: 113410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-17G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-17G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8209C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-17G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2884C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-17G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2884C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2884C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2884C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-17G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-17G>A
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-105715963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715963
    reference: chr 14
allele count: 1
allele frequency: 8.795074758135444e-6
allele num: 113700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2881G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2881G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2881G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8212G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-14C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2881G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-105715966-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715966
    reference: chr 14
allele count: 1
allele frequency: 8.771006560712907e-6
allele num: 114012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2878C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2878C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2878C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8215C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-11G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2878C>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-105715970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715970
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715970
    reference: chr 14
allele count: 408
allele frequency: 3.561079495862863e-3
allele num: 114572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8219G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2874G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-7C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-7C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-7C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-7C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2874G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2874G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-7C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2874G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-7C>T
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 19333
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
hgvs: c.426-7C>T
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

14-105715971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715971
    reference: chr 14
allele count: 1
allele frequency: 8.704583833846904e-6
allele num: 114882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2873C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2873C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8220C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-6G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2873C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2873C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.426-6G>A
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-105715973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715973
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715973
    reference: chr 14
allele count: 2
allele frequency: 1.733522865166592e-5
allele num: 115372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.426-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2871G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8222G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.201-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2871G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.201-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.292-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2871G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.426-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.426-4C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2871G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.426-4C>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-105715982-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715982
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715982
    reference: chr 14
allele count: 1
allele frequency: 8.572065353426254e-6
allele num: 116658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.431T>A
  hgvsp: ENSP00000376337.3:p.Met144Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.431T>A
  hgvsp: ENSP00000446223.2:p.Met144Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.431T>A
  hgvsp: ENSP00000443091.1:p.Met144Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2862A>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2862A>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8231A>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.206T>A
  hgvsp: ENSP00000418150.3:p.Met69Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2862A>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.206T>A
  hgvsp: ENSP00000329361.3:p.Met69Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.297T>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2862A>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met144Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-105715986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715986
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715986
    reference: chr 14
allele count: 4
allele frequency: 3.418219107844813e-5
allele num: 117020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.435C>T
  hgvsp: ENST00000392554.3:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.210C>T
  hgvsp: ENST00000463376.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8235G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.210C>T
  hgvsp: ENST00000327471.3:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.435C>T
  hgvsp: ENST00000537513.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2858G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2858G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.301C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.435C>T
  hgvsp: ENST00000536364.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2858G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2858G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20007
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15248
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr145Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

14-105715987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715987
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715987
    reference: chr 14
allele count: 1
allele frequency: 8.531840829977476e-6
allele num: 117208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.302A>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2857T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.211A>G
  hgvsp: ENSP00000418150.3:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2857T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.436A>G
  hgvsp: ENSP00000443091.1:p.Ser146Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.211A>G
  hgvsp: ENSP00000329361.3:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.436A>G
  hgvsp: ENSP00000376337.3:p.Ser146Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2857T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.436A>G
  hgvsp: ENSP00000446223.2:p.Ser146Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2857T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8236T>C
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser146Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-105715987-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715987
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715987
    reference: chr 14
allele count: 3
allele frequency: 2.559552248993243e-5
allele num: 117208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.211A>C
  hgvsp: ENSP00000329361.3:p.Ser71Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2857T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.302A>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2857T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2857T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.211A>C
  hgvsp: ENSP00000418150.3:p.Ser71Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8236T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.436A>C
  hgvsp: ENSP00000376337.3:p.Ser146Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.436A>C
  hgvsp: ENSP00000446223.2:p.Ser146Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.436A>C
  hgvsp: ENSP00000443091.1:p.Ser146Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2857T>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser146Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

14-105715995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715995
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715995
    reference: chr 14
allele count: 1
allele frequency: 8.481188723411473e-6
allele num: 117908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2849C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2849C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.444G>A
  hgvsp: ENST00000536364.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.444G>A
  hgvsp: ENST00000392554.3:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2849C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.219G>A
  hgvsp: ENST00000463376.2:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.310G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.219G>A
  hgvsp: ENST00000327471.3:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2849C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.444G>A
  hgvsp: ENST00000537513.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8244C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu148Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-105715997-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105715997
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105715997
    reference: chr 14
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.446T>C
  hgvsp: ENSP00000376337.3:p.Ile149Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2847A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.446T>C
  hgvsp: ENSP00000446223.2:p.Ile149Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8246A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.221T>C
  hgvsp: ENSP00000418150.3:p.Ile74Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.312T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.221T>C
  hgvsp: ENSP00000329361.3:p.Ile74Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.446T>C
  hgvsp: ENSP00000443091.1:p.Ile149Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2847A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2847A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2847A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile149Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

14-105716010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716010
    reference: chr 14
allele count: 38
allele frequency: 3.184019573341377e-4
allele num: 119346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.459C>G
  hgvsp: ENST00000537513.2:c.459C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.234C>G
  hgvsp: ENST00000463376.2:c.234C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.325C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8259G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2834G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.459C>G
  hgvsp: ENST00000392554.3:c.459C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2834G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.234C>G
  hgvsp: ENST00000327471.3:c.234C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.459C>G
  hgvsp: ENST00000536364.1:c.459C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2834G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2834G>C
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20756
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ala153Ala
num of homozygotes: 2
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105716016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716016
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716016
    reference: chr 14
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.331G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2828C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.240G>A
  hgvsp: ENST00000327471.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2828C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.240G>A
  hgvsp: ENST00000463376.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2828C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.465G>A
  hgvsp: ENST00000392554.3:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8265C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.465G>A
  hgvsp: ENST00000537513.2:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.465G>A
  hgvsp: ENST00000536364.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2828C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr155Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

14-105716017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716017
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716017
    reference: chr 14
allele count: 1
allele frequency: 8.3365290027844e-6
allele num: 119954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.466G>A
  hgvsp: ENSP00000446223.2:p.Val156Met
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.466G>A
  hgvsp: ENSP00000376337.3:p.Val156Met
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2827C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8266C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.466G>A
  hgvsp: ENSP00000443091.1:p.Val156Met
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2827C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.241G>A
  hgvsp: ENSP00000418150.3:p.Val81Met
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.241G>A
  hgvsp: ENSP00000329361.3:p.Val81Met
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.332G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2827C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2827C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val156Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-105716020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716020
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716020
    reference: chr 14
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.469C>T
  hgvsp: ENST00000536364.1:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.335C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.244C>T
  hgvsp: ENST00000463376.2:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.244C>T
  hgvsp: ENST00000327471.3:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2824G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.469C>T
  hgvsp: ENST00000392554.3:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.469C>T
  hgvsp: ENST00000537513.2:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2824G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8269G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2824G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2824G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu157Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-105716022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716022
    reference: chr 14
allele count: 2
allele frequency: 1.664890783164624e-5
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8271C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.471G>A
  hgvsp: ENST00000537513.2:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.246G>A
  hgvsp: ENST00000327471.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2822C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.337G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.246G>A
  hgvsp: ENST00000463376.2:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.471G>A
  hgvsp: ENST00000536364.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2822C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.471G>A
  hgvsp: ENST00000392554.3:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2822C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2822C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu157Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

14-105716025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716025
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716025
    reference: chr 14
allele count: 3
allele frequency: 2.495632642874969e-5
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2819G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2819G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.474C>T
  hgvsp: ENST00000537513.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.474C>T
  hgvsp: ENST00000392554.3:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2819G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.249C>T
  hgvsp: ENST00000463376.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.474C>T
  hgvsp: ENST00000536364.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8274G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.249C>T
  hgvsp: ENST00000327471.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2819G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.340C>T
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala158Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-105716029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716029
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716029
    reference: chr 14
allele count: 2
allele frequency: 1.662178783950002e-5
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2815G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.478C>T
  hgvsp: ENST00000392554.3:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.253C>T
  hgvsp: ENST00000463376.2:c.253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.344C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8278G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.478C>T
  hgvsp: ENST00000537513.2:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2815G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.253C>T
  hgvsp: ENST00000327471.3:c.253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.478C>T
  hgvsp: ENST00000536364.1:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2815G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2815G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu160Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

14-105716034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716034
    reference: chr 14
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8283G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.258C>G
  hgvsp: ENSP00000329361.3:p.Tyr86Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.349C>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.483C>G
  hgvsp: ENSP00000443091.1:p.Tyr161Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2810G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.483C>G
  hgvsp: ENSP00000376337.3:p.Tyr161Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.483C>G
  hgvsp: ENSP00000446223.2:p.Tyr161Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2810G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.258C>G
  hgvsp: ENSP00000418150.3:p.Tyr86Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2810G>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2810G>C
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr161Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-105716034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716034
    reference: chr 14
allele count: 29846
allele frequency: 2.476024556163929e-1
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.483C>T
  hgvsp: ENST00000536364.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.483C>T
  hgvsp: ENST00000392554.3:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.258C>T
  hgvsp: ENST00000327471.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8283G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.483C>T
  hgvsp: ENST00000537513.2:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.258C>T
  hgvsp: ENST00000463376.2:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.349C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2810G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2810G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2810G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2810G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 3.25e1
  variant carriers: 1210
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 6.25e1
  variant carriers: 2457
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 6.75e1
  variant carriers: 2028
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 1876
genotype depth: GenotypeDepth
  all individuals: 15713
  bin: 2.75e1
  variant carriers: 631
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.25e1
  variant carriers: 2435
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 5.75e1
  variant carriers: 2828
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 1209
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 8.25e1
  variant carriers: 869
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 1589
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.75e1
  variant carriers: 626
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 4.75e1
  variant carriers: 2818
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 1261
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 3006
genotype quality: GenotypeQuality
hgvs: p.Tyr161Tyr
num of homozygotes: 3956
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-105716036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716036
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716036
    reference: chr 14
allele count: 7
allele frequency: 5.803541818664191e-5
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.260C>T
  hgvsp: ENSP00000329361.3:p.Ala87Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2808G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.485C>T
  hgvsp: ENSP00000443091.1:p.Ala162Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.485C>T
  hgvsp: ENSP00000446223.2:p.Ala162Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.351C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2808G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.485C>T
  hgvsp: ENSP00000376337.3:p.Ala162Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2808G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.260C>T
  hgvsp: ENSP00000418150.3:p.Ala87Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8285G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2808G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala162Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-105716040-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716040
    reference: chr 14
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2804A>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2804A>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.489T>G
  hgvsp: ENST00000537513.2:c.489T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2804A>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2804A>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.489T>G
  hgvsp: ENST00000536364.1:c.489T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.489T>G
  hgvsp: ENST00000392554.3:c.489T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.264T>G
  hgvsp: ENST00000463376.2:c.264T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.264T>G
  hgvsp: ENST00000327471.3:c.264T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8289A>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.355T>G
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala163Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

14-105716040-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716037
    reference: chr 14
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.268_270delAAG
  hgvsp: ENSP00000418150.3:p.Lys90del
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2801_199+2803delCTT
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2801_544+2803delCTT
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8292_105-8290delCTT
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.268_270delAAG
  hgvsp: ENSP00000329361.3:p.Lys90del
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.493_495delAAG
  hgvsp: ENSP00000446223.2:p.Lys165del
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.493_495delAAG
  hgvsp: ENSP00000376337.3:p.Lys165del
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.359_361delAAG
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.493_495delAAG
  hgvsp: ENSP00000443091.1:p.Lys165del
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2801_199+2803delCTT
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2801_463+2803delCTT
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys165del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: TAAG
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

14-105716041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716041
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716041
    reference: chr 14
allele count: 2
allele frequency: 1.657605092162843e-5
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.490A>G
  hgvsp: ENSP00000443091.1:p.Lys164Glu
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.265A>G
  hgvsp: ENSP00000329361.3:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.265A>G
  hgvsp: ENSP00000418150.3:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2803T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2803T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8290T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.356A>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2803T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2803T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.490A>G
  hgvsp: ENSP00000446223.2:p.Lys164Glu
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.490A>G
  hgvsp: ENSP00000376337.3:p.Lys164Glu
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys164Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

14-105716046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716046
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716046
    reference: chr 14
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8295C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.495G>A
  hgvsp: ENST00000392554.3:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.270G>A
  hgvsp: ENST00000327471.3:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2798C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2798C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.495G>A
  hgvsp: ENST00000536364.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2798C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.270G>A
  hgvsp: ENST00000463376.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2798C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.361G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.495G>A
  hgvsp: ENST00000537513.2:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys165Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-105716053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716053
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716053
    reference: chr 14
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.277G>A
  hgvsp: ENSP00000329361.3:p.Val93Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2791C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2791C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2791C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.368G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.502G>A
  hgvsp: ENSP00000376337.3:p.Val168Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.502G>A
  hgvsp: ENSP00000446223.2:p.Val168Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8302C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.502G>A
  hgvsp: ENSP00000443091.1:p.Val168Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2791C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.277G>A
  hgvsp: ENSP00000418150.3:p.Val93Ile
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11822
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val168Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

14-105716062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716062
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716062
    reference: chr 14
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2782A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.377T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2782A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.511T>C
  hgvsp: ENST00000536364.1:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.286T>C
  hgvsp: ENST00000463376.2:c.286T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.286T>C
  hgvsp: ENST00000327471.3:c.286T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.511T>C
  hgvsp: ENST00000392554.3:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2782A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.511T>C
  hgvsp: ENST00000537513.2:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8311A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2782A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu171Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-105716063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716063
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716063
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2781A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.512T>C
  hgvsp: ENSP00000446223.2:p.Leu171Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.512T>C
  hgvsp: ENSP00000376337.3:p.Leu171Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.512T>C
  hgvsp: ENSP00000443091.1:p.Leu171Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2781A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.287T>C
  hgvsp: ENSP00000418150.3:p.Leu96Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.378T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8312A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.287T>C
  hgvsp: ENSP00000329361.3:p.Leu96Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2781A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2781A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu171Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-105716065-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716065
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716065
    reference: chr 14
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8314C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.289G>T
  hgvsp: ENSP00000329361.3:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2779C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.289G>T
  hgvsp: ENSP00000418150.3:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2779C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.514G>T
  hgvsp: ENSP00000376337.3:p.Ala172Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.380G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.514G>T
  hgvsp: ENSP00000446223.2:p.Ala172Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.514G>T
  hgvsp: ENSP00000443091.1:p.Ala172Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2779C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2779C>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala172Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105716074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716074
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716074
    reference: chr 14
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.523T>C
  hgvsp: ENSP00000376337.3:p.Cys175Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.523T>C
  hgvsp: ENSP00000446223.2:p.Cys175Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.298T>C
  hgvsp: ENSP00000418150.3:p.Cys100Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.298T>C
  hgvsp: ENSP00000329361.3:p.Cys100Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2770A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.523T>C
  hgvsp: ENSP00000443091.1:p.Cys175Arg
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.389T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2770A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8323A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2770A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2770A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys175Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

14-105716075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716075
    reference: chr 14
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.299G>A
  hgvsp: ENSP00000418150.3:p.Cys100Tyr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.390G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2769C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.524G>A
  hgvsp: ENSP00000443091.1:p.Cys175Tyr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2769C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.299G>A
  hgvsp: ENSP00000329361.3:p.Cys100Tyr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.524G>A
  hgvsp: ENSP00000446223.2:p.Cys175Tyr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2769C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.524G>A
  hgvsp: ENSP00000376337.3:p.Cys175Tyr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8324C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2769C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys175Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-105716081-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716081
    reference: chr 14
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.305A>C
  hgvsp: ENSP00000418150.3:p.Asn102Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.305A>C
  hgvsp: ENSP00000329361.3:p.Asn102Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2763T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.530A>C
  hgvsp: ENSP00000376337.3:p.Asn177Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.530A>C
  hgvsp: ENSP00000443091.1:p.Asn177Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2763T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.396A>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2763T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.530A>C
  hgvsp: ENSP00000446223.2:p.Asn177Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2763T>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8330T>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn177Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

14-105716082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716082
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716082
    reference: chr 14
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2762G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.531C>T
  hgvsp: ENST00000392554.3:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8331G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2762G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.397C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.306C>T
  hgvsp: ENST00000463376.2:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2762G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.306C>T
  hgvsp: ENST00000327471.3:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.531C>T
  hgvsp: ENST00000537513.2:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2762G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.531C>T
  hgvsp: ENST00000536364.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn177Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-105716085-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716085
    reference: chr 14
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.534T>C
  hgvsp: ENST00000536364.1:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2759A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2759A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8334A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2759A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.400T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.309T>C
  hgvsp: ENST00000327471.3:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.309T>C
  hgvsp: ENST00000463376.2:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.534T>C
  hgvsp: ENST00000537513.2:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2759A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.534T>C
  hgvsp: ENST00000392554.3:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe178Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-105716098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716098
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716098
    reference: chr 14
allele count: 5
allele frequency: 4.144768473233085e-5
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.322T>C
  hgvsp: ENST00000463376.2:c.322T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.547T>C
  hgvsp: ENST00000536364.1:c.547T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.547T>C
  hgvsp: ENST00000537513.2:c.547T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.547T>C
  hgvsp: ENST00000392554.3:c.547T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.413T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2746A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8347A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.322T>C
  hgvsp: ENST00000327471.3:c.322T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2746A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2746A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2746A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu183Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

14-105716104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716104
    reference: chr 14
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2740C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2740C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.328G>C
  hgvsp: ENSP00000329361.3:p.Ala110Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2740C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.553G>C
  hgvsp: ENSP00000443091.1:p.Ala185Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.553G>C
  hgvsp: ENSP00000376337.3:p.Ala185Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.553G>C
  hgvsp: ENSP00000446223.2:p.Ala185Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.419G>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2740C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.328G>C
  hgvsp: ENSP00000418150.3:p.Ala110Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8353C>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala185Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

14-105716112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716112
    reference: chr 14
allele count: 4
allele frequency: 3.317574852782616e-5
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.336C>T
  hgvsp: ENST00000327471.3:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8361G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.336C>T
  hgvsp: ENST00000463376.2:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2732G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.427C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.561C>T
  hgvsp: ENST00000536364.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.561C>T
  hgvsp: ENST00000392554.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.561C>T
  hgvsp: ENST00000537513.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2732G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2732G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2732G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn187Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

14-105716113-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716113
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716112
    reference: chr 14
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2730delG
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.339delC
  hgvsp: ENSP00000329361.3:p.Cys114AlafsTer15
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2730delG
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.564delC
  hgvsp: ENSP00000446223.2:p.Cys189AlafsTer15
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.564delC
  hgvsp: ENSP00000443091.1:p.Cys189AlafsTer15
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.339delC
  hgvsp: ENSP00000418150.3:p.Cys114AlafsTer15
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8363delG
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.430delC
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2730delG
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.564delC
  hgvsp: ENSP00000376337.3:p.Cys189AlafsTer15
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2730delG
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys189AlafsTer15
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: GC
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-105716131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716131
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716131
    reference: chr 14
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2713G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2713G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.355C>T
  hgvsp: ENSP00000329361.3:p.Gln119Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.580C>T
  hgvsp: ENSP00000376337.3:p.Gln194Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.446C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2713G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.580C>T
  hgvsp: ENSP00000446223.2:p.Gln194Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8380G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.580C>T
  hgvsp: ENSP00000443091.1:p.Gln194Ter
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2713G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.355C>T
  hgvsp: ENSP00000418150.3:p.Gln119Ter
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln194Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

14-105716155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716155
    reference: chr 14
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2689C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.470G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.604G>A
  hgvsp: ENSP00000443091.1:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.604G>A
  hgvsp: ENSP00000446223.2:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2689C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.604G>A
  hgvsp: ENSP00000376337.3:p.Glu202Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.379G>A
  hgvsp: ENSP00000329361.3:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8404C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2689C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.379G>A
  hgvsp: ENSP00000418150.3:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2689C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu202Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

14-105716160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716160
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716160
    reference: chr 14
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2684C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.609G>A
  hgvsp: ENST00000392554.3:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.609G>A
  hgvsp: ENST00000537513.2:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.609G>A
  hgvsp: ENST00000536364.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8409C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2684C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2684C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.384G>A
  hgvsp: ENST00000463376.2:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.475G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.384G>A
  hgvsp: ENST00000327471.3:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2684C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu203Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

14-105716176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716176
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716176
    reference: chr 14
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2668C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8425C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.400G>A
  hgvsp: ENSP00000418150.3:p.Glu134Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2668C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2668C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.400G>A
  hgvsp: ENSP00000329361.3:p.Glu134Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.625G>A
  hgvsp: ENSP00000446223.2:p.Glu209Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.625G>A
  hgvsp: ENSP00000376337.3:p.Glu209Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.625G>A
  hgvsp: ENSP00000443091.1:p.Glu209Lys
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2668C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.491G>A
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu209Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS

14-105716177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716177
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716177
    reference: chr 14
allele count: 4
allele frequency: 3.334111292634948e-5
allele num: 119972
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2667T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2667T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.401A>G
  hgvsp: ENSP00000329361.3:p.Glu134Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8426T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2667T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.626A>G
  hgvsp: ENSP00000446223.2:p.Glu209Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.492A>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.626A>G
  hgvsp: ENSP00000443091.1:p.Glu209Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2667T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.626A>G
  hgvsp: ENSP00000376337.3:p.Glu209Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.401A>G
  hgvsp: ENSP00000418150.3:p.Glu134Gly
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu209Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-105716179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716179
    reference: chr 14
allele count: 4
allele frequency: 3.335112059765208e-5
allele num: 119936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8428C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.628G>A
  hgvsp: ENSP00000443091.1:p.Val210Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.403G>A
  hgvsp: ENSP00000418150.3:p.Val135Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.494G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2665C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.628G>A
  hgvsp: ENSP00000376337.3:p.Val210Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2665C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.628G>A
  hgvsp: ENSP00000446223.2:p.Val210Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.403G>A
  hgvsp: ENSP00000329361.3:p.Val135Ile
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2665C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2665C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val210Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

14-105716183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716183
    reference: chr 14
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.407T>C
  hgvsp: ENSP00000329361.3:p.Ile136Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2661A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2661A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.632T>C
  hgvsp: ENSP00000446223.2:p.Ile211Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8432A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2661A>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.498T>C
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.407T>C
  hgvsp: ENSP00000418150.3:p.Ile136Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.632T>C
  hgvsp: ENSP00000376337.3:p.Ile211Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.632T>C
  hgvsp: ENSP00000443091.1:p.Ile211Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2661A>G
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile211Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-105716186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716186
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716186
    reference: chr 14
allele count: 1
allele frequency: 8.344737808338063e-6
allele num: 119836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.501A>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2658T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.410A>G
  hgvsp: ENSP00000418150.3:p.Asp137Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.635A>G
  hgvsp: ENSP00000443091.1:p.Asp212Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2658T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2658T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.635A>G
  hgvsp: ENSP00000376337.3:p.Asp212Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.635A>G
  hgvsp: ENSP00000446223.2:p.Asp212Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.410A>G
  hgvsp: ENSP00000329361.3:p.Asp137Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8435T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2658T>C
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp212Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-105716187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716187
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716187
    reference: chr 14
allele count: 15
allele frequency: 1.252337697034464e-4
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.411C>T
  hgvsp: ENST00000463376.2:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8436G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.636C>T
  hgvsp: ENST00000392554.3:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.636C>T
  hgvsp: ENST00000536364.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.636C>T
  hgvsp: ENST00000537513.2:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2657G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2657G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.411C>T
  hgvsp: ENST00000327471.3:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.502C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2657G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2657G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26607
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp212Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-105716194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716194
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716194
    reference: chr 14
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.418G>A
  hgvsp: ENSP00000329361.3:p.Ala140Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.643G>A
  hgvsp: ENSP00000376337.3:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.643G>A
  hgvsp: ENSP00000443091.1:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.643G>A
  hgvsp: ENSP00000446223.2:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2650C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8443C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.418G>A
  hgvsp: ENSP00000418150.3:p.Ala140Thr
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2650C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2650C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.509G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2650C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala215Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105716194-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716194
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716194
    reference: chr 14
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.643G>C
  hgvsp: ENSP00000443091.1:p.Ala215Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.418G>C
  hgvsp: ENSP00000418150.3:p.Ala140Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8443C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2650C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2650C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.643G>C
  hgvsp: ENSP00000376337.3:p.Ala215Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.643G>C
  hgvsp: ENSP00000446223.2:p.Ala215Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.418G>C
  hgvsp: ENSP00000329361.3:p.Ala140Pro
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2650C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2650C>G
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.509G>C
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala215Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-105716209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716209
    reference: chr 14
allele count: 3
allele frequency: 2.51454243709453e-5
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8458G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.433C>A
  hgvsp: ENST00000327471.3:c.433C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.658C>A
  hgvsp: ENST00000537513.2:c.658C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.524C>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2635G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.658C>A
  hgvsp: ENST00000392554.3:c.658C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.658C>A
  hgvsp: ENST00000536364.1:c.658C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2635G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2635G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.433C>A
  hgvsp: ENST00000463376.2:c.433C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2635G>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg220Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-105716209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716209
    reference: chr 14
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.658C>T
  hgvsp: ENSP00000376337.3:p.Arg220Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.658C>T
  hgvsp: ENSP00000446223.2:p.Arg220Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.524C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2635G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2635G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8458G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2635G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.433C>T
  hgvsp: ENSP00000418150.3:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.658C>T
  hgvsp: ENSP00000443091.1:p.Arg220Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2635G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.433C>T
  hgvsp: ENSP00000329361.3:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg220Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-105716210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716210
    reference: chr 14
allele count: 3
allele frequency: 2.51475321888412e-5
allele num: 119296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2634C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.659G>A
  hgvsp: ENSP00000443091.1:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2634C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.434G>A
  hgvsp: ENSP00000329361.3:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8459C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.525G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.659G>A
  hgvsp: ENSP00000446223.2:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.659G>A
  hgvsp: ENSP00000376337.3:p.Arg220Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2634C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.434G>A
  hgvsp: ENSP00000418150.3:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2634C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg220Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-105716211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716211
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716211
    reference: chr 14
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2633C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.660G>A
  hgvsp: ENST00000536364.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2633C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.435G>A
  hgvsp: ENST00000327471.3:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.660G>A
  hgvsp: ENST00000392554.3:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.435G>A
  hgvsp: ENST00000463376.2:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8460C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2633C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.660G>A
  hgvsp: ENST00000537513.2:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2633C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.526G>A
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg220Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

14-105716218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716218
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716218
    reference: chr 14
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.667G>A
  hgvsp: ENSP00000376337.3:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2626C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.442G>A
  hgvsp: ENSP00000418150.3:p.Gly148Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8467C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2626C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.667G>A
  hgvsp: ENSP00000446223.2:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2626C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.533G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.667G>A
  hgvsp: ENSP00000443091.1:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2626C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.442G>A
  hgvsp: ENSP00000329361.3:p.Gly148Ser
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly223Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-105716219-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716219
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716219
    reference: chr 14
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.668G>T
  hgvsp: ENSP00000443091.1:p.Gly223Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8468C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.534G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.668G>T
  hgvsp: ENSP00000376337.3:p.Gly223Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2625C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2625C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2625C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.443G>T
  hgvsp: ENSP00000329361.3:p.Gly148Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.668G>T
  hgvsp: ENSP00000446223.2:p.Gly223Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.443G>T
  hgvsp: ENSP00000418150.3:p.Gly148Val
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2625C>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly223Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-105716236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716236
    reference: chr 14
allele count: 8
allele frequency: 6.747865987381491e-5
allele num: 118556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2608G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.685C>T
  hgvsp: ENSP00000443091.1:p.Arg229Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.551C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2608G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8485G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.685C>T
  hgvsp: ENSP00000446223.2:p.Arg229Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.460C>T
  hgvsp: ENSP00000329361.3:p.Arg154Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.460C>T
  hgvsp: ENSP00000418150.3:p.Arg154Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.685C>T
  hgvsp: ENSP00000376337.3:p.Arg229Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2608G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2608G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg229Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

14-105716237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716237
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716237
    reference: chr 14
allele count: 4
allele frequency: 3.374673078545516e-5
allele num: 118530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.686G>A
  hgvsp: ENSP00000376337.3:p.Arg229Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8486C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.686G>A
  hgvsp: ENSP00000446223.2:p.Arg229Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2607C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.461G>A
  hgvsp: ENSP00000418150.3:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.461G>A
  hgvsp: ENSP00000329361.3:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.552G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2607C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.686G>A
  hgvsp: ENSP00000443091.1:p.Arg229Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2607C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2607C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

14-105716244-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716244
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716244
    reference: chr 14
allele count: 1
allele frequency: 8.445660619573662e-6
allele num: 118404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.693G>T
  hgvsp: ENST00000536364.1:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8493C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2600C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.468G>T
  hgvsp: ENST00000463376.2:c.468G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.468G>T
  hgvsp: ENST00000327471.3:c.468G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.693G>T
  hgvsp: ENST00000392554.3:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.559G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.693G>T
  hgvsp: ENST00000537513.2:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2600C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2600C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2600C>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr231Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-105716257-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716257
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716257
    reference: chr 14
allele count: 2
allele frequency: 1.693336720006773e-5
allele num: 118110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2587C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2587C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8506C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.706G>T
  hgvsp: ENSP00000443091.1:p.Val236Phe
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.572G>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.481G>T
  hgvsp: ENSP00000329361.3:p.Val161Phe
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.706G>T
  hgvsp: ENSP00000446223.2:p.Val236Phe
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2587C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2587C>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.706G>T
  hgvsp: ENSP00000376337.3:p.Val236Phe
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.481G>T
  hgvsp: ENSP00000418150.3:p.Val161Phe
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val236Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-105716263-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716263
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716263
    reference: chr 14
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2581G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2581G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8512G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.712C>A
  hgvsp: ENST00000392554.3:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.712C>A
  hgvsp: ENST00000536364.1:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.712C>A
  hgvsp: ENST00000537513.2:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.487C>A
  hgvsp: ENST00000463376.2:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.487C>A
  hgvsp: ENST00000327471.3:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2581G>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.578C>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2581G>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg238Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-105716263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716263
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716263
    reference: chr 14
allele count: 3
allele frequency: 2.544529262086514e-5
allele num: 117900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.487C>T
  hgvsp: ENSP00000329361.3:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.712C>T
  hgvsp: ENSP00000443091.1:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.712C>T
  hgvsp: ENSP00000446223.2:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.578C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8512G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2581G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2581G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.487C>T
  hgvsp: ENSP00000418150.3:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.712C>T
  hgvsp: ENSP00000376337.3:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2581G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2581G>A
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg238Trp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-105716264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716264
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716264
    reference: chr 14
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.713G>A
  hgvsp: ENSP00000443091.1:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2580C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.488G>A
  hgvsp: ENSP00000329361.3:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8513C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.488G>A
  hgvsp: ENSP00000418150.3:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2580C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2580C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.579G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.713G>A
  hgvsp: ENSP00000446223.2:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2580C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.713G>A
  hgvsp: ENSP00000376337.3:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg238Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-105716267-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716267
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716267
    reference: chr 14
allele count: 1
allele frequency: 8.480757161999423e-6
allele num: 117914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.491A>G
  hgvsp: ENSP00000329361.3:p.Glu164Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2577T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.716A>G
  hgvsp: ENSP00000443091.1:p.Glu239Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.491A>G
  hgvsp: ENSP00000418150.3:p.Glu164Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.716A>G
  hgvsp: ENSP00000446223.2:p.Glu239Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2577T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2577T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.716A>G
  hgvsp: ENSP00000376337.3:p.Glu239Gly
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.582A>G
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8516T>C
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2577T>C
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu239Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-105716268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716268
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716268
    reference: chr 14
allele count: 2
allele frequency: 1.696784593195894e-5
allele num: 117870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2576C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.717G>A
  hgvsp: ENST00000536364.1:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.583G>A
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2576C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.717G>A
  hgvsp: ENST00000392554.3:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.492G>A
  hgvsp: ENST00000463376.2:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.492G>A
  hgvsp: ENST00000327471.3:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.717G>A
  hgvsp: ENST00000537513.2:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8517C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2576C>T
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2576C>T
  variant of: http://identifiers.org/hgnc/11551
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu239Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-105716277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105716277
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105716277
    reference: chr 14
allele count: 1
allele frequency: 8.489685032685287e-6
allele num: 117790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000388877
  ensembl transcript: ENST00000440513
  gene symbol: BRF1
  hgvsc: ENST00000440513.3:c.199+2567G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000443091
  ensembl transcript: ENST00000536364
  gene symbol: BTBD6
  hgvsc: ENST00000536364.1:c.726C>T
  hgvsp: ENST00000536364.1:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000329361
  ensembl transcript: ENST00000327471
  gene symbol: BTBD6
  hgvsc: ENST00000327471.3:c.501C>T
  hgvsp: ENST00000327471.3:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184887
  ensembl transcript: ENST00000392553
  gene symbol: BTBD6
  hgvsc: ENST00000392553.2:n.592C>T
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000329029
  ensembl transcript: ENST00000327359
  gene symbol: BRF1
  hgvsc: ENST00000327359.3:c.199+2567G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000448323
  ensembl transcript: ENST00000546474
  gene symbol: BRF1
  hgvsc: ENST00000546474.1:c.544+2567G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000450258
  ensembl transcript: ENST00000546417
  gene symbol: BRF1
  hgvsc: ENST00000546417.1:c.105-8526G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000446223
  ensembl transcript: ENST00000537513
  gene symbol: BTBD6
  hgvsc: ENST00000537513.2:c.726C>T
  hgvsp: ENST00000537513.2:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185024
  ensembl protein: ENSP00000369269
  ensembl transcript: ENST00000379937
  gene symbol: BRF1
  hgvsc: ENST00000379937.2:c.463+2567G>A
  variant of: http://identifiers.org/hgnc/11551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000376337
  ensembl transcript: ENST00000392554
  gene symbol: BTBD6
  hgvsc: ENST00000392554.3:c.726C>T
  hgvsp: ENST00000392554.3:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184887
  ensembl protein: ENSP00000418150
  ensembl transcript: ENST00000463376
  gene symbol: BTBD6
  hgvsc: ENST00000463376.2:c.501C>T
  hgvsp: ENST00000463376.2:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19897
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn242Asn
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 4082
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6793
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 5.627914455700274e-4
allele num: 12438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.669637e6

GenotypeQuality
all individuals: 24637
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57743635044326e-5
allele num: 63394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12622
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 4.296e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.676942e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.79e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.816e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 1750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6807
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 562
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575646803012637e-5
allele num: 63466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.888923950773115e-5
allele num: 12676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.429e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.679181e6

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572920598968164e-5
allele num: 63576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.626e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.369e0

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 1.685506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63692
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.034e0

FS
type: SiteQuality
SIO_000300: 2.5826e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.691e0

DP
type: SiteQuality
SIO_000300: 1.691182e6

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
all individuals: 7151
bin: 9.75e1
variant carriers: 402

GenotypeQuality
all individuals: 787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7924
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variant carriers: 1

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

GenotypeQuality
all individuals: 694
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1758
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2800
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 2

South Asian
type: Population
allele count: 77
allele frequency: 5.822746521476104e-3
allele num: 13224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.43161094224924e-3
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.975122064636131e-4
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 2.703645560788418e-3
allele num: 11466
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 265
allele frequency: 4.148013649312839e-3
allele num: 63886
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.033741715203856e-4
allele num: 9958
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.841121495327103e-3
allele num: 856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.705405e6

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

FS
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6839
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563135023603339e-5
allele num: 63974
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.85e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.70483e6

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 6846
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64122
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.462629808395495e-4
allele num: 13674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.71277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 3.565e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 6853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549955051303512e-5
allele num: 64518
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14390
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.336e0

DP
type: SiteQuality
SIO_000300: 1.73014e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

FS
type: SiteQuality
SIO_000300: 3.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

QD
type: SiteQuality
SIO_000300: 5.26e0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 27993
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 8309
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variant carriers: 0

GenotypeQuality
all individuals: 3882
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6859
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.927729772191673e-4
allele num: 10184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.782e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.74e0

DP
type: SiteQuality
SIO_000300: 1.736164e6

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
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GenotypeQuality
all individuals: 2868
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3518
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1224e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

DP
type: SiteQuality
SIO_000300: 1.737328e6

QD
type: SiteQuality
SIO_000300: 1.095e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.482702577199907e-4
allele num: 8614
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
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SIO_000300: 1.1224e1

InbreedingCoeff
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SIO_000300: 1.2e-3

MQRankSum
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DP
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SIO_000300: 1.737328e6

ReadPosRankSum
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SIO_000300: 1.07e0

BaseQRankSum
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SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.095e1

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.538698261270965e-5
allele num: 64990
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.2204e1

InbreedingCoeff
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SIO_000300: 1.2e-3

VQSLOD
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QD
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MQ
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DP
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ClippingRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
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SIO_000300: -2.07e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.837e1

ClippingRankSum
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SIO_000300: -2.11e-1

ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.3e-3

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.726e1

DP
type: SiteQuality
SIO_000300: 1.747312e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.808433107756377e-4
allele num: 11526
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.287910679967054e-4
allele num: 65562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.558578987150416e-4
allele num: 15876
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.148e1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
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SIO_000300: 2.69e-2

FS
type: SiteQuality
SIO_000300: 1.811e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.766876e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

African
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allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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DP
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SIO_000300: 1.774636e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
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allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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MQRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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African
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InbreedingCoeff
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03692905733722e-5
allele num: 65856
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.778457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 602
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 1836
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variant carriers: 0

GenotypeQuality
all individuals: 8661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6937
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705614e-5
allele num: 65900
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
SIO_000300: 1.780675e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 2.715e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3674
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8647
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29475
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 1571
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 3000
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variant carriers: 0

GenotypeQuality
all individuals: 4104
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 1841
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6941
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.914e1

DP
type: SiteQuality
SIO_000300: 1.782433e6

VQSLOD
type: SiteQuality
SIO_000300: -7.572e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.978e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22523
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 96
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variant carriers: 0

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

GenotypeQuality
all individuals: 5293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

DP
type: SiteQuality
SIO_000300: 2.448235e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

QD
type: SiteQuality
SIO_000300: 1.698e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 28

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 51

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1810
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 26448
bin: 9.75e1
variant carriers: 25492

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 32

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 16

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 73

GenotypeQuality
all individuals: 5293
bin: 6.75e1
variant carriers: 37

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 70

GenotypeQuality
all individuals: 22523
bin: 6.25e1
variant carriers: 36

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 17

Latino
type: Population
allele count: 2590
allele frequency: 2.248263888888889e-1
allele num: 11520
num of homozygotes: 283

African
type: Population
allele count: 1509
allele frequency: 1.462492731149448e-1
allele num: 10318
num of homozygotes: 120

European (Finnish)
type: Population
allele count: 2231
allele frequency: 3.386460230722526e-1
allele num: 6588
num of homozygotes: 363

Other
type: Population
allele count: 232
allele frequency: 2.566371681415929e-1
allele num: 904
num of homozygotes: 34

South Asian
type: Population
allele count: 4006
allele frequency: 2.432301153612629e-1
allele num: 16470
num of homozygotes: 555

East Asian
type: Population
allele count: 1137
allele frequency: 1.322093023255814e-1
allele num: 8600
num of homozygotes: 80

European (Non-Finnish)
type: Population
allele count: 18141
allele frequency: 2.742818264287874e-1
allele num: 66140
num of homozygotes: 2521

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.448235e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 1.698e1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 37584
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 3257
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variant carriers: 0

GenotypeQuality
all individuals: 9918
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1794
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.639451655950503e-4
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.089e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.697625e6

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 3246
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2098
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GenotypeQuality
all individuals: 760
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 3384
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 1.171e0

DP
type: SiteQuality
SIO_000300: 1.697542e6

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9894
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 1781
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 37618
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GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 3384
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GenotypeQuality
all individuals: 760
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variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.171e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.697542e6

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.347e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

MQRankSum
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ReadPosRankSum
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SIO_000300: 8.2e-1

MQ
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SIO_000300: 5.884e1

DP
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ClippingRankSum
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SIO_000300: -9.72e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

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

African
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allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
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SIO_000300: 2.51e0

VQSLOD
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DP
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SIO_000300: 1.697108e6

FS
type: SiteQuality
SIO_000300: 2.981e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
SIO_000300: 1.623e1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.859e1

MQRankSum
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SIO_000300: -1.305e0

ReadPosRankSum
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SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.365e0

BaseQRankSum
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SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.496e1

VQSLOD
type: SiteQuality
SIO_000300: -1.916e0

DP
type: SiteQuality
SIO_000300: 1.696348e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

African
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66168
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 6.05766900896535e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

FS
type: SiteQuality
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -5.16e-1

ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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DP
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SIO_000300: 1.694694e6

MQ
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 3.5e-3

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

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

ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

MQ
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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SIO_000300: 9.69e-1

ReadPosRankSum
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VQSLOD
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SIO_000300: -2.409e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66174
num of homozygotes: 0

East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: 9.379999999999999e-1

InbreedingCoeff
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SIO_000300: 2.6e-3

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 4
allele frequency: 3.466204506065858e-4
allele num: 11540
num of homozygotes: 0

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

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

East Asian
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allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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allele frequency: 2.914319020788809e-4
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
type: Population
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South Asian
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allele frequency: 6.05913717886573e-5
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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 frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

DP
type: SiteQuality
SIO_000300: 1.692645e6

MQ
type: SiteQuality
SIO_000300: 6.023e1

VQSLOD
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SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 7.342e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3041e1

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

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.67828e6

ReadPosRankSum
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MQ
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FS
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MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
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SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
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SIO_000300: -1.236e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519202722411279e-5
allele num: 65824
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

BaseQRankSum
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SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.795e0

DP
type: SiteQuality
SIO_000300: 1.674848e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521884702014975e-5
allele num: 65708
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 3.63e-1

InbreedingCoeff
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SIO_000300: 1.3e-3

VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.129e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.087353523055851e-5
allele num: 65710
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

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

African
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.089206880803775e-5
allele num: 65690
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.523972080831479e-5
allele num: 65618
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.686587908269631e-5
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.370667710984923e-3
allele num: 10214
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European (Non-Finnish)
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.526251526251526e-5
allele num: 65520
num of homozygotes: 0

Latino
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Other
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East Asian
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European (Finnish)
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African
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South Asian
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FS
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DP
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele num: 888
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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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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 4.595588235294118e-5
allele num: 65280
num of homozygotes: 0

Other
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South Asian
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Latino
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European (Finnish)
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 65290
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African
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East Asian
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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African
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European (Non-Finnish)
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FS
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

South Asian
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Latino
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Other
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African
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European (Non-Finnish)
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East Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 64720
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Latino
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East Asian
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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European (Finnish)
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East Asian
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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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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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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VQSLOD
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MQRankSum
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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DP
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744896178677369e-4
allele num: 11462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

DP
type: SiteQuality
SIO_000300: 1.582304e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
all individuals: 1409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1903
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556323341737479e-5
allele num: 64254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

DP
type: SiteQuality
SIO_000300: 1.582775e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 396
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 6.88e0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

DP
type: SiteQuality
SIO_000300: 1.583135e6

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
all individuals: 2666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.112452924149522e-5
allele num: 64258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.4128e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -1.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.583143e6

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0