12-44199388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199388
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+636G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+636G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+636G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+246G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+246G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+636G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.78G>C
  hgvsp: ENSP00000448221.1:p.Gln26His
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+246G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+246G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+636G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+636G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln26His
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: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-44199403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199403
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+231T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+231T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+231T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.63T>C
  hgvsp: ENST00000546662.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+621T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+231T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys21Cys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-44199481-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199481
    reference: chr 12
allele count: 3
allele frequency: 2.519314746388982e-4
allele num: 11908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+153G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+153G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+153G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-41G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+543G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+153G>T
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32903
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-44199489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199489
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199489
    reference: chr 12
allele count: 1
allele frequency: 7.836990595611286e-5
allele num: 12760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+535T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+535T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+535T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+535T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+535T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+145T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+145T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+145T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+145T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-49T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+535T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-44199596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199596
    reference: chr 12
allele count: 1
allele frequency: 8.899172376968941e-6
allele num: 112370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+38C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+428C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-156C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+38C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+428C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+38C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+428C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+38C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+428C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+428C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+428C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7588
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/12-44199598-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199598
    reference: chr 12
allele count: 1
allele frequency: 8.897747090436701e-6
allele num: 112388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+36T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+36T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-158T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+426T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+36T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+36T>G
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-44199602-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199602
    reference: chr 12
allele count: 4
allele frequency: 3.557579422960618e-5
allele num: 112436
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+32A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+32A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-162A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+32A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+422A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+32A>C
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-44199607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199607
    reference: chr 12
allele count: 1
allele frequency: 8.889837138183629e-6
allele num: 112488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-167G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+417G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+417G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+27G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+417G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+27G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+27G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+417G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+27G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+417G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+417G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-44199610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199610
    reference: chr 12
allele count: 1
allele frequency: 8.885887433577992e-6
allele num: 112538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+24A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+24A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+24A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-170A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+414A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+24A>G
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-44199615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199615
    reference: chr 12
allele count: 1
allele frequency: 8.881783462119194e-6
allele num: 112590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+409G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+409G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+409G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+19G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+19G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+409G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-175G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+409G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+19G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+19G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+409G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-44199621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199621
    reference: chr 12
allele count: 9
allele frequency: 7.990624334114639e-5
allele num: 112632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+13T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+13T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+13T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-181T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+403T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+13T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

12-44199624-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199625
    reference: chr 12
allele count: 1
allele frequency: 8.879259824900996e-6
allele num: 112622
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-185dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+9dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+9dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+9dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+399dupT
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+9dupT
  variant of: http://identifiers.org/hgnc/9620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29559
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-44199633-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199633
    reference: chr 12
allele count: 1
allele frequency: 8.875161971705983e-6
allele num: 112674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+391G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-193G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+391G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-270+1G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.234+1G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-270+1G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+391G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*55+1G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+391G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+391G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+391G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.-270+1G>C
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-44199635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199635
    reference: chr 12
allele count: 2
allele frequency: 1.775063902300483e-5
allele num: 112672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+389A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+389A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-271A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-271A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+389A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+389A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.233A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+389A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-195A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+389A>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-271A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-44199643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199643
    reference: chr 12
allele count: 1
allele frequency: 8.874689385871495e-6
allele num: 112680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+381C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*46C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+381C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+381C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+381C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-203C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.225C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+381C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+381C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-44199643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199643
    reference: chr 12
allele count: 1
allele frequency: 8.874689385871495e-6
allele num: 112680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-279C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-203C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+381C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-279C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*46C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.225C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

12-44199647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199647
    reference: chr 12
allele count: 1
allele frequency: 8.875477056891809e-6
allele num: 112670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-283C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+377C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-207C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-283C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.221C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+377C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+377C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*42C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+377C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+377C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+377C>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-44199658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199658
    reference: chr 12
allele count: 1
allele frequency: 8.878471482349599e-6
allele num: 112632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-294G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+366G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+366G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+366G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+366G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.210G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+366G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-294G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+366G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-44199661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199661
    reference: chr 12
allele count: 1
allele frequency: 8.879890599747811e-6
allele num: 112614
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+363G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+363G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-297G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.207G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+363G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+363G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-297G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+363G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-221G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+363G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-44199665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199665
    reference: chr 12
allele count: 2
allele frequency: 1.776230483667561e-5
allele num: 112598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.203G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+359G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-225G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+359G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+359G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+359G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+359G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+359G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-44199668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199668
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199668
    reference: chr 12
allele count: 6
allele frequency: 5.330206278982997e-5
allele num: 112566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-304G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.200G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-304G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+356G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+356G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+356G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-228G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+356G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+356G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+356G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-44199671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199671
    reference: chr 12
allele count: 3
allele frequency: 2.665671482646479e-5
allele num: 112542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+353G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.197G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-307G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-307G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+353G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+353G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+353G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-231G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+353G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+353G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44690
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-44199673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199673
    reference: chr 12
allele count: 11
allele frequency: 9.777951608028587e-5
allele num: 112498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.195G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-309G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-309G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*16G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+351G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-233G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-44199677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199677
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199677
    reference: chr 12
allele count: 3
allele frequency: 2.668374426299498e-5
allele num: 112428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-313G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*12G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-237G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-313G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+347G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.191G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29629
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-44199680-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199680
    reference: chr 12
allele count: 1
allele frequency: 8.894106764857605e-6
allele num: 112434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+344T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+344T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-316T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+344T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+344T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*9T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-240T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.188T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-316T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+344T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+344T>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-44199682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199682
    reference: chr 12
allele count: 5
allele frequency: 4.44974458466084e-5
allele num: 112366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-318G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+342G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.186G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-318G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+342G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+342G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+342G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+342G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+342G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-44199691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199691
    reference: chr 12
allele count: 1
allele frequency: 8.916311500258573e-6
allele num: 112154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.177T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+333T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+333T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-327T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+333T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+333T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.358T>C
  hgvsp: ENSP00000446665.1:p.Ter120GlnextTer361
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-3T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+333T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+333T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter120GlnextTer361
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-44199693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199693
    reference: chr 12
allele count: 1
allele frequency: 8.922357643783794e-6
allele num: 112078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+331C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+331C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.356C>T
  hgvsp: ENSP00000446665.1:p.Thr119Met
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-5C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-329C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+331C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+331C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+331C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.175C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-253C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+331C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr119Met
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-44199703-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199703
    reference: chr 12
allele count: 1
allele frequency: 8.972311446874944e-6
allele num: 111454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+321C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-263C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-339C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+321C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-15C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.346C>A
  hgvsp: ENSP00000446665.1:p.Leu116Ile
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+321C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+321C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.165C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+321C>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+321C>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu116Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

12-44199706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199706
    reference: chr 12
allele count: 2
allele frequency: 1.801996612246369e-5
allele num: 110988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+318C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-18C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+318C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.343C>T
  hgvsp: ENSP00000446665.1:p.Pro115Ser
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+318C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+318C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+318C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-342C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.162C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-266C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+318C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro115Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-44199712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199712
    reference: chr 12
allele count: 3
allele frequency: 2.724003922565649e-5
allele num: 110132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+312A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+312A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-272A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-24A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-348A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+312A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+312A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.337A>G
  hgvsp: ENSP00000446665.1:p.Thr113Ala
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.156A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+312A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+312A>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr113Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-44199716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199716
    reference: chr 12
allele count: 1
allele frequency: 9.19337341644143e-6
allele num: 108774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+308C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-28C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+308C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+308C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+308C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-352C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.152C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.333C>T
  hgvsp: ENST00000547459.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-276C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+308C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+308C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg111Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-44199716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199716
    reference: chr 12
allele count: 1
allele frequency: 9.19337341644143e-6
allele num: 108774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.152C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-276C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.333C>G
  hgvsp: ENST00000547459.1:c.333C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-28C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+308C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-352C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg111Arg
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: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

12-44199725-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199725
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199725
    reference: chr 12
allele count: 1
allele frequency: 9.532888465204957e-6
allele num: 104900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-285C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.143C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-37C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+299C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.324C>G
  hgvsp: ENST00000547459.1:c.324C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+299C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+299C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+299C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+299C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-361C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+299C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro108Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-44199730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199730
    reference: chr 12
allele count: 1
allele frequency: 9.875372795323023e-6
allele num: 101262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+294G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+294G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-366G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+294G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-42G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.138G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.26-290G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.319G>T
  hgvsp: ENSP00000446665.1:p.Val107Phe
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+294G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+294G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+294G>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val107Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-44199732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199732
    reference: chr 12
allele count: 4
allele frequency: 3.982477100756671e-5
allele num: 100440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.317C>T
  hgvsp: ENSP00000446665.1:p.Thr106Ile
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-368C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.136C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+292C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-44C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23167
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr106Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-44199735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199735
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199735
    reference: chr 12
allele count: 1
allele frequency: 1.026651882879553e-5
allele num: 97404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.133C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-47C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.314C>T
  hgvsp: ENSP00000446665.1:p.Ser105Phe
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-371C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+289C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+289C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14037
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser105Phe
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-44199737-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199737
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199737
    reference: chr 12
allele count: 1
allele frequency: 1.041883725776203e-5
allele num: 95980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-49T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.131T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-373T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.312T>G
  hgvsp: ENST00000547459.1:c.312T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+287T>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+287T>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro104Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-44199737-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199737
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199737
    reference: chr 12
allele count: 1
allele frequency: 1.041883725776203e-5
allele num: 95980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.312T>A
  hgvsp: ENST00000547459.1:c.312T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.131T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-373T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-49T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+287T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+287T>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro104Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-44199748-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199748
    reference: chr 12
allele count: 1
allele frequency: 1.194200960137572e-5
allele num: 83738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-60G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-384G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.301G>T
  hgvsp: ENSP00000446665.1:p.Gly101Trp
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+276G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.120G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+276G>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly101Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-44199748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199748
    reference: chr 12
allele count: 1
allele frequency: 1.194200960137572e-5
allele num: 83738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-384G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.301G>A
  hgvsp: ENSP00000446665.1:p.Gly101Arg
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-60G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+276G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.120G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+276G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly101Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-44199760-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199760
    reference: chr 12
allele count: 8
allele frequency: 1.172573505701639e-4
allele num: 68226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-72G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-396G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+264G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.289G>T
  hgvsp: ENSP00000446665.1:p.Gly97Cys
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.108G>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17840
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18732
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly97Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-44199766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199766
    reference: chr 12
allele count: 1
allele frequency: 1.621060822202049e-5
allele num: 61688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-402C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-78C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.283C>T
  hgvsp: ENSP00000446665.1:p.Arg95Ter
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.102C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+258C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+258C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg95Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-44199768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199768
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 60164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-404T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.281T>C
  hgvsp: ENSP00000446665.1:p.Phe94Ser
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.100T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+256T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-80T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe94Ser
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: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-44199773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199773
    reference: chr 12
allele count: 4
allele frequency: 7.428592653121866e-5
allele num: 53846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.276T>C
  hgvsp: ENST00000547459.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.95T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-85T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-409T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+251T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+251T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile92Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-44199776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199776
    reference: chr 12
allele count: 7
allele frequency: 1.388448111710568e-4
allele num: 50416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-412A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.273A>G
  hgvsp: ENST00000547459.1:c.273A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.92A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-88A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+248A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+248A>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16557
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Glu91Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-44199777-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199777
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199777
    reference: chr 12
allele count: 1
allele frequency: 2.047082906857728e-5
allele num: 48850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-89A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-413A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.91A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.272A>C
  hgvsp: ENSP00000446665.1:p.Glu91Ala
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+247A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+247A>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10618
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu91Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-44199778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199778
    reference: chr 12
allele count: 2
allele frequency: 4.265847623922873e-5
allele num: 46884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.90G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-90G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-414G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.271G>A
  hgvsp: ENSP00000446665.1:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+246G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+246G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu91Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-44199779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199779
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 46768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.89G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-91G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-415G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.270G>A
  hgvsp: ENST00000547459.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+245G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+245G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys90Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-44199782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199782
    reference: chr 12
allele count: 1
allele frequency: 2.307337332718043e-5
allele num: 43340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.86G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-94G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.267G>A
  hgvsp: ENST00000547459.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+242G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-418G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+242G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22339
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala89Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-44199789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199789
    reference: chr 12
allele count: 1
allele frequency: 2.829975096219153e-5
allele num: 35336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-425G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-101G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.260G>C
  hgvsp: ENSP00000446665.1:p.Gly87Ala
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.79G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+235G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+235G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21527
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly87Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-44199793-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199792
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 30672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.255delA
  hgvsp: ENSP00000446665.1:p.Lys85AsnfsTer74
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-106delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-430delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.74delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+230delA
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+230delA
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24034
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys85AsnfsTer74
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: AT
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-44199794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199794
    reference: chr 12
allele count: 1
allele frequency: 3.264986287057595e-5
allele num: 30628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.255A>G
  hgvsp: ENST00000547459.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-106A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+230A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.74A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-430A>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+230A>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24310
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys85Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-44199795-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199795
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 29588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-431A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.73A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.254A>C
  hgvsp: ENSP00000446665.1:p.Lys85Thr
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-107A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+229A>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+229A>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20352
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21391
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys85Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-44199802-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199802
    reference: chr 12
allele count: 1
allele frequency: 4.170141784820684e-5
allele num: 23980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-114G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-438G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+222G>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.247G>T
  hgvsp: ENSP00000446665.1:p.Asp83Tyr
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.66G>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp83Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

12-44199803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199803
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199803
    reference: chr 12
allele count: 2
allele frequency: 8.309788931361143e-5
allele num: 24068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-439T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.246T>C
  hgvsp: ENST00000547459.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.65T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+221T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-115T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.65T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-44199804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199804
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-440T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.64T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.245T>C
  hgvsp: ENSP00000446665.1:p.Ile82Thr
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+220T>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-116T>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17641
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile82Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-44199806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199806
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-1G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-118G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.243G>A
  hgvsp: ENST00000547459.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-1G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+218G>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+218G>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: n.63-1G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-44199808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199808
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199808
    reference: chr 12
allele count: 1
allele frequency: 4.95785820525533e-5
allele num: 20170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-3C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-120C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-3C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.241C>T
  hgvsp: ENSP00000446665.1:p.Gln81Ter
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+216C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+216C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln81Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-44199818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199818
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-130C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.231C>G
  hgvsp: ENST00000547459.1:c.231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-13C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-13C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+206C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+206C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala77Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-44199822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199822
    reference: chr 12
allele count: 1
allele frequency: 6.905123601712471e-5
allele num: 14482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-17C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.227C>T
  hgvsp: ENSP00000446665.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-134C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+202C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-17C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+202C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala76Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-44199825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199825
    reference: chr 12
allele count: 5
allele frequency: 3.540574989378275e-4
allele num: 14122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.224C>T
  hgvsp: ENSP00000446665.1:p.Pro75Leu
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-20C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-137C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+199C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-20C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro75Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-44199827-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199827
    reference: chr 12
allele count: 1
allele frequency: 7.601094557616297e-5
allele num: 13156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-22C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+197C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.222C>G
  hgvsp: ENST00000547459.1:c.222C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-22C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-139C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+197C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val74Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-44199831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199831
    reference: chr 12
allele count: 1
allele frequency: 7.768800497203231e-5
allele num: 12872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-26C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-26C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-143C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+193C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.218C>T
  hgvsp: ENSP00000446665.1:p.Pro73Leu
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+193C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34522
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro73Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-44199833-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199833
    reference: chr 12
allele count: 2
allele frequency: 1.59311773140035e-4
allele num: 12554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-28C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.216C>G
  hgvsp: ENSP00000446665.1:p.Ser72Arg
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-28C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-145C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+191C>G
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+191C>G
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser72Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-44199847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199847
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-159G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.202G>C
  hgvsp: ENSP00000446665.1:p.Ala68Pro
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-42G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+177G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-42G>C
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+177G>C
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala68Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-44199853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199853
    reference: chr 12
allele count: 2
allele frequency: 1.77430801987225e-4
allele num: 11272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-48C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.196C>T
  hgvsp: ENSP00000446665.1:p.Arg66Trp
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-48C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+171C>T
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-324-165C>T
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg66Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-44199856-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44199856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 44199856
    reference: chr 12
allele count: 5
allele frequency: 4.455533772945999e-4
allele num: 11222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448750
  ensembl transcript: ENST00000552521
  gene symbol: TWF1
  hgvsc: ENST00000552521.1:c.-325+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448230
  ensembl transcript: ENST00000546506
  gene symbol: TWF1
  hgvsc: ENST00000546506.1:c.-441-51T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000449428
  ensembl transcript: ENST00000548315
  gene symbol: TWF1
  hgvsc: ENST00000548315.1:c.25+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446665
  ensembl transcript: ENST00000547459
  gene symbol: TWF1
  hgvsc: ENST00000547459.1:c.193T>A
  hgvsp: ENSP00000446665.1:p.Cys65Ser
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448682
  ensembl transcript: ENST00000550371
  gene symbol: TWF1
  hgvsc: ENST00000550371.1:c.25+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547564
  gene symbol: TWF1
  hgvsc: ENST00000547564.1:n.63-51T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000378886
  ensembl transcript: ENST00000395510
  gene symbol: TWF1
  hgvsc: ENST00000395510.2:c.25+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl transcript: ENST00000547961
  gene symbol: TWF1
  hgvsc: ENST00000547961.1:n.35+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000448221
  ensembl transcript: ENST00000546662
  gene symbol: TWF1
  hgvsc: ENST00000546662.1:c.25+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000446696
  ensembl transcript: ENST00000548403
  gene symbol: TWF1
  hgvsc: ENST00000548403.1:c.25+168T>A
  variant of: http://identifiers.org/hgnc/9620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151239
  ensembl protein: ENSP00000321058
  ensembl transcript: ENST00000325127
  gene symbol: TWF1
  hgvsc: ENST00000325127.4:c.127+168T>A
  variant of: http://identifiers.org/hgnc/9620
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30209
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys65Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 9767
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.552e1

DP
type: SiteQuality
SIO_000300: 1.5276e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 1.62971e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2873
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 193
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.992805755395684e-4
allele num: 3336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 2.93725e5

QD
type: SiteQuality
SIO_000300: 1.127e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 2.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.049999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 27845
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.587155963302753e-3
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.06e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

DP
type: SiteQuality
SIO_000300: 3.30916e5

QD
type: SiteQuality
SIO_000300: 1.042e1

GenotypeQuality
all individuals: 1353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 43584
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.518945e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 5.175e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61212
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.520354e6

GenotypeQuality
all individuals: 9
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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
all individuals: 213
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variant carriers: 4

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.763979537837361e-4
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633079661625894e-5
allele num: 61234
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 1.522614e6

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
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SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
SIO_000300: 1.354e1

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

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.2306177701206e-4
allele num: 8126
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 2.269e0

DP
type: SiteQuality
SIO_000300: 1.525369e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 140
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61284
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.230314960629921e-4
allele num: 8128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.526276e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7627
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61324
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.527849e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.574e0

QD
type: SiteQuality
SIO_000300: 1.091e1

MQ
type: SiteQuality
SIO_000300: 5.843e1

GenotypeQuality
all individuals: 566
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.75e1
variant carriers: 9

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

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

GenotypeQuality
all individuals: 1583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61350
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.552813425468904e-4
allele num: 16208
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.529043e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630417060684123e-5
allele num: 61334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 1.529501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.28e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629460648525338e-5
allele num: 61370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

DP
type: SiteQuality
SIO_000300: 1.530107e6

FS
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 5.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.761e0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.233806292412091e-4
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
SIO_000300: 1.530193e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.533e1

GenotypeQuality
all individuals: 672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
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GenotypeQuality
all individuals: 202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61378
num of homozygotes: 0

Latino
type: Population
allele count: 0
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African
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

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

European (Non-Finnish)
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allele num: 61364
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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FS
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: 3.9e-3

BaseQRankSum
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SIO_000300: -6.509e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61342
num of homozygotes: 0

South Asian
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Other
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East Asian
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.529907e6

GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61332
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.815232722143864e-5
allele num: 11344
num of homozygotes: 0

South Asian
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InbreedingCoeff
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SIO_000300: 1.4e-3

BaseQRankSum
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SIO_000300: -1.689e0

ReadPosRankSum
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FS
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 2

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

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

African
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allele count: 1
allele frequency: 1.231830500123183e-4
allele num: 8118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.630682930011089e-5
allele num: 61324
num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: -4.74e-1

VQSLOD
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ReadPosRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

African
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European (Non-Finnish)
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allele num: 61310
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South Asian
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European (Finnish)
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Other
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East Asian
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 8106
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East Asian
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South Asian
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Latino
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allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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MQRankSum
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.159801553626216e-5
allele num: 61276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.293806246691371e-4
allele num: 11334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.528015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 3.424e0

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 752
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.852537977028529e-4
allele num: 16194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 1.52645e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633079661625894e-5
allele num: 61234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

DP
type: SiteQuality
SIO_000300: 1.526281e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.167e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 761
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GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633826749011535e-5
allele num: 61206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.651113467656416e-4
allele num: 11316
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 1.525424e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

FS
type: SiteQuality
SIO_000300: 4.825e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 44263
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 1288
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1535
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 7477
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GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.247193813918683e-4
allele num: 8018
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: 0
allele frequency: 0.0e0
allele num: 61100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 6.34e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 1.521684e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: -1.365e-1

GenotypeQuality
all individuals: 649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
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variant carriers: 0

GenotypeQuality
all individuals: 81
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 1526
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 170
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GenotypeQuality
all individuals: 1283
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637679735350955e-5
allele num: 61062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.520772e6

QD
type: SiteQuality
SIO_000300: 1.13e1

FS
type: SiteQuality
SIO_000300: 3.328e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1470
bin: 7.25e1
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GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645602948920484e-5
allele num: 60768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.788e1

FS
type: SiteQuality
SIO_000300: 1.955e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

DP
type: SiteQuality
SIO_000300: 1.511629e6

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

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
all individuals: 153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 1181
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.305675845426598e-5
allele num: 60502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.887e0

FS
type: SiteQuality
SIO_000300: 1.2666e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.517e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 1.503383e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

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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bin: 4.75e1
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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: 820
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.666111296234588e-5
allele num: 60020
num of homozygotes: 0

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

South Asian
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allele frequency: 1.250781738586617e-4
allele num: 15990
num of homozygotes: 0

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

MQ
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SIO_000300: 5.948e1

BaseQRankSum
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SIO_000300: 3.08e0

VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 2.066e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.486586e6

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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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.688732774925696e-5
allele num: 59216
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -1.37e0

DP
type: SiteQuality
SIO_000300: 1.46037e6

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -1.66e-1

FS
type: SiteQuality
SIO_000300: 7.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

InbreedingCoeff
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SIO_000300: 8.800000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.194e0

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: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688732774925696e-5
allele num: 59216
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
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

VQSLOD
type: SiteQuality
SIO_000300: -2.306e-1

BaseQRankSum
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SIO_000300: -3.194e0

ClippingRankSum
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SIO_000300: -1.37e0

MQRankSum
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InbreedingCoeff
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SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 7.951e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

DP
type: SiteQuality
SIO_000300: 1.46037e6

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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.754385964912281e-5
allele num: 57000
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 3.424e0

ClippingRankSum
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SIO_000300: -3.08e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.384923e6

QD
type: SiteQuality
SIO_000300: 1.492e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-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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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6880
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.819505094614265e-5
allele num: 54960
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 4.15973377703827e-4
allele num: 7212
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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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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variant carriers: 0

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

South Asian
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Other
type: Population
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allele frequency: 0.0e0
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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

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.926336877793189e-5
allele num: 51912
num of homozygotes: 0

FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -1.412e0

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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.926336877793189e-5
allele num: 51912
num of homozygotes: 0

East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5900
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Latino
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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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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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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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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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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South Asian
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allele num: 13668
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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BaseQRankSum
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SIO_000300: -2.727e0

DP
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 8.0e-3

ReadPosRankSum
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SIO_000300: 2.26e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7
allele frequency: 1.571621014818141e-3
allele num: 4454
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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allele num: 6008
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European (Finnish)
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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FS
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DP
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BaseQRankSum
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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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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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South Asian
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MQ
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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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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South Asian
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European (Non-Finnish)
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Other
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African
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East Asian
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European (Finnish)
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Latino
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9996
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.734375e-4
allele num: 25600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 3.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.26199e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.16282e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.869e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 1931
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 31635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.906976744186046e-4
allele num: 3440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.416195856873823e-5
allele num: 10620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 6.04948e5

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 1703
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11445
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

DP
type: SiteQuality
SIO_000300: 6.03792e5

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.601932811780948e-5
allele num: 21730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.91e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 3.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 5.83453e5

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

GenotypeQuality
all individuals: 215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17548
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.034554107179805e-4
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.29354e5

QD
type: SiteQuality
SIO_000300: 1.628e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.5e0
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GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 1

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 20648
bin: 7.5e0
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GenotypeQuality
all individuals: 870
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.213e1

QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.94635e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
all individuals: 87
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 20706
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 1130
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variant carriers: 0

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

GenotypeQuality
all individuals: 856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 6.891798759476223e-5
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Other
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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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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South Asian
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European (Non-Finnish)
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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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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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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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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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East Asian
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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DP
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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Other
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East Asian
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allele num: 992
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FS
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 1162
num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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Other
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QD
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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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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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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East Asian
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African
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South Asian
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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Other
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BaseQRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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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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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

Other
type: Population
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: 316
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

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

VQSLOD
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DP
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MQRankSum
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MQ
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SIO_000300: 5.805e1

BaseQRankSum
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SIO_000300: -4.67e-1

ReadPosRankSum
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SIO_000300: 1.19e0

InbreedingCoeff
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SIO_000300: -7.72e-2

ClippingRankSum
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SIO_000300: -1.191e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.93e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 322
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: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

African
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allele count: 5
allele frequency: 1.033057851239669e-2
allele num: 484
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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DP
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SIO_000300: 3.33784e5

BaseQRankSum
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SIO_000300: -3.58e-1

MQRankSum
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 9.57e-1

ReadPosRankSum
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SIO_000300: 1.43e-1

QD
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SIO_000300: 1.231e1

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

Latino
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allele count: 1
allele frequency: 4.807692307692308e-3
allele num: 208
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.19937e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
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SIO_000300: -8.169999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 1.46e0

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 8.68e0

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: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East 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
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.289656951250967e-4
allele num: 7754
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
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SIO_000300: -8.29e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.298e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.13715e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 2
allele frequency: 5.813953488372093e-3
allele num: 344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3804
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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 count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.43e-2

BaseQRankSum
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DP
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VQSLOD
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FS
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MQ
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 286
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

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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num of homozygotes: 0

South Asian
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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

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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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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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
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
type: Population
allele count: 0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.637130801687763e-4
allele num: 7584
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.179e1

ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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