5-135396659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135396659
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135396659
    reference: chr 5
allele count: 2
allele frequency: 1.780246386099836e-5
allele num: 112344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1906+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1906+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1499+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.551+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2423+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.132+34G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.52+34G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18600
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/5-135396662-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135396662
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135396662
    reference: chr 5
allele count: 2
allele frequency: 1.793754148056467e-5
allele num: 111498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.132+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.551+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.52+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1906+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1906+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1499+37C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2423+37C>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16465
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

5-135396669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135396669
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135396669
    reference: chr 5
allele count: 58854
allele frequency: 5.383053451871365e-1
allele num: 109332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1906+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1906+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2423+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.551+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1499+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.52+44T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.132+44T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 13835
  bin: 1.25e1
  variant carriers: 9877
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.25e1
  variant carriers: 8961
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 1151
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 1347
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 2.75e1
  variant carriers: 4534
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 1.75e1
  variant carriers: 13207
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 7.5e0
  variant carriers: 2430
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 2007
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 536
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.5e0
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 577
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.25e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 864
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 1036
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 5.25e1
  variant carriers: 1922
num of homozygotes: 15747
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-135396671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135396671
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135396671
    reference: chr 5
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.132+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1906+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2423+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1906+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1499+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.551+46A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.52+46A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

5-135396672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135396672
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135396672
    reference: chr 5
allele count: 1
allele frequency: 9.15650294839395e-6
allele num: 109212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1499+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1906+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.132+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2423+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.551+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.52+47T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1906+47T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

5-135397139-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397139
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397137
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 36434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.262_263delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-49_133-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+515_1058+516delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-49_1907-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-49_1907-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-49_2424-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-49_53-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-49_552-48delAT
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-49_*1500-48delAT
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24798
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAT
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

5-135397140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397140
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397140
    reference: chr 5
allele count: 11
allele frequency: 3.011058797766342e-4
allele num: 36532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.262A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+515A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-49A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-49A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16757
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24794
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9458
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11786
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-135397149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397149
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 36732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.271G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+524G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-40G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-40G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25651
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5881
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-135397158-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397158
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397158
    reference: chr 5
allele count: 1
allele frequency: 2.636018557570645e-5
allele num: 37936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+533T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.280T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-31T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-31T>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10833
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

5-135397164-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397164
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397164
    reference: chr 5
allele count: 5
allele frequency: 1.260970442852819e-4
allele num: 39652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+539A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.286A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-25A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-25A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30395
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

5-135397164-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397164
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397164
    reference: chr 5
allele count: 8
allele frequency: 2.017552708564511e-4
allele num: 39652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.286A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+539A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-25A>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-25A>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30395
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-135397165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397165
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 39914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.287A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+540A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-24A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-24A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30756
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-135397166-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397166
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397166
    reference: chr 5
allele count: 11
allele frequency: 2.745469974542006e-4
allele num: 40066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.288C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-23C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+541C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-23C>A
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31003
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-135397181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397181
    reference: chr 5
allele count: 1
allele frequency: 2.147858584990764e-5
allele num: 46558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+556C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.303C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-8C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-8C>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7900
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1907-8C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

5-135397181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397181
    reference: chr 5
allele count: 4
allele frequency: 8.591434339963057e-5
allele num: 46558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.303C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+556C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-8C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-8C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32926
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31972
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1907-8C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

5-135397183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397183
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397183
    reference: chr 5
allele count: 1
allele frequency: 2.079953409043638e-5
allele num: 48078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+558C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.305C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907-6C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552-6C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1907-6C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-135397189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397189
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397189
    reference: chr 5
allele count: 1
allele frequency: 1.880335451844609e-5
allele num: 53182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1907C>T
  hgvsp: ENSP00000416330.2:p.Ala636Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.133C>T
  hgvsp: ENSP00000427137.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.53C>T
  hgvsp: ENSP00000423935.1:p.Ala18Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2424C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1500C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1907C>T
  hgvsp: ENSP00000306306.8:p.Ala636Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.552C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.311C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+564C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala636Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-135397194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397194
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397194
    reference: chr 5
allele count: 3
allele frequency: 5.217028380634391e-5
allele num: 57504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.316A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.557A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1912A>G
  hgvsp: ENSP00000306306.8:p.Arg638Gly
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2429A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1912A>G
  hgvsp: ENSP00000416330.2:p.Arg638Gly
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1505A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.138A>G
  hgvsp: ENSP00000427137.1:p.Arg47Gly
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.58A>G
  hgvsp: ENSP00000423935.1:p.Arg20Gly
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+569A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29924
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg638Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-135397198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397198
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397198
    reference: chr 5
allele count: 1
allele frequency: 1.646253127880943e-5
allele num: 60744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1509C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2433C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.62C>T
  hgvsp: ENSP00000423935.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.142C>T
  hgvsp: ENSP00000427137.1:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1916C>T
  hgvsp: ENSP00000416330.2:p.Pro639Leu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+573C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1916C>T
  hgvsp: ENSP00000306306.8:p.Pro639Leu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.561C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.320C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro639Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-135397203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397203
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397203
    reference: chr 5
allele count: 1
allele frequency: 1.537184492882836e-5
allele num: 65054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+578G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.67G>A
  hgvsp: ENSP00000423935.1:p.Glu23Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.566G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.325G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2438G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1921G>A
  hgvsp: ENSP00000306306.8:p.Glu641Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1514G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1921G>A
  hgvsp: ENSP00000416330.2:p.Glu641Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.147G>A
  hgvsp: ENSP00000427137.1:p.Glu50Lys
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu641Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-135397207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397207
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397207
    reference: chr 5
allele count: 7
allele frequency: 1.014375144910735e-4
allele num: 69008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+582G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2442G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1925G>A
  hgvsp: ENSP00000416330.2:p.Arg642Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1518G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.329G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1925G>A
  hgvsp: ENSP00000306306.8:p.Arg642Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.71G>A
  hgvsp: ENSP00000423935.1:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.570G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.151G>A
  hgvsp: ENSP00000427137.1:p.Arg51Lys
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg642Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-135397209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397209
    reference: chr 5
allele count: 2
allele frequency: 2.821829674360856e-5
allele num: 70876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.73G>A
  hgvsp: ENSP00000423935.1:p.Gly25Arg
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.572G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1927G>A
  hgvsp: ENSP00000416330.2:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.153G>A
  hgvsp: ENSP00000427137.1:p.Gly52Arg
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.331G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+584G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2444G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1927G>A
  hgvsp: ENSP00000306306.8:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1520G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly643Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

5-135397212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397212
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397212
    reference: chr 5
allele count: 1
allele frequency: 1.358880282647099e-5
allele num: 73590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+587G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.156G>A
  hgvsp: ENSP00000427137.1:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.76G>A
  hgvsp: ENSP00000423935.1:p.Asp26Asn
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2447G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1930G>A
  hgvsp: ENSP00000306306.8:p.Asp644Asn
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.575G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.334G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1523G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1930G>A
  hgvsp: ENSP00000416330.2:p.Asp644Asn
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp644Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

5-135397214-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397214
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397214
    reference: chr 5
allele count: 1
allele frequency: 1.320166869092253e-5
allele num: 75748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+589T>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.158T>A
  hgvsp: ENSP00000427137.1:p.Asp53Glu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1932T>A
  hgvsp: ENSP00000416330.2:p.Asp644Glu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1525T>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2449T>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.78T>A
  hgvsp: ENSP00000423935.1:p.Asp26Glu
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.336T>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.577T>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1932T>A
  hgvsp: ENSP00000306306.8:p.Asp644Glu
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp644Glu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

5-135397220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397220
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397220
    reference: chr 5
allele count: 6
allele frequency: 7.392622163081245e-5
allele num: 81162
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1938T>C
  hgvsp: ENST00000442011.2:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.583T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+595T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1938T>C
  hgvsp: ENST00000305126.8:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.164T>C
  hgvsp: ENST00000503087.1:c.164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2455T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1531T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.84T>C
  hgvsp: ENST00000508076.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.342T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19843
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu646Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-135397223-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397223
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397223
    reference: chr 5
allele count: 3
allele frequency: 3.564554074285307e-5
allele num: 84162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+598A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1941A>C
  hgvsp: ENST00000305126.8:c.1941A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.345A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1534A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000513497
  gene symbol: TGFBI
  hgvsc: ENST00000513497.1:n.586A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2458A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.87A>C
  hgvsp: ENST00000508076.1:c.87A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1941A>C
  hgvsp: ENST00000442011.2:c.1941A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.167A>C
  hgvsp: ENST00000503087.1:c.167A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala647Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-135397228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397228
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397228
    reference: chr 5
allele count: 2
allele frequency: 2.260295646670585e-5
allele num: 88484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.350C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1539C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1946C>G
  hgvsp: ENSP00000416330.2:p.Ser649Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1946C>G
  hgvsp: ENSP00000306306.8:p.Ser649Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.172C>G
  hgvsp: ENSP00000427137.1:p.Ser58Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.92C>G
  hgvsp: ENSP00000423935.1:p.Ser31Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2463C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+603C>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser649Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-135397228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397228
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397228
    reference: chr 5
allele count: 1
allele frequency: 1.130147823335292e-5
allele num: 88484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+603C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2463C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.350C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.92C>T
  hgvsp: ENSP00000423935.1:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1946C>T
  hgvsp: ENSP00000306306.8:p.Ser649Phe
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1946C>T
  hgvsp: ENSP00000416330.2:p.Ser649Phe
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1539C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.172C>T
  hgvsp: ENSP00000427137.1:p.Ser58Phe
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser649Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

5-135397231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397231
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397231
    reference: chr 5
allele count: 19
allele frequency: 2.09643605870021e-4
allele num: 90630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2466C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.175C>T
  hgvsp: ENSP00000427137.1:p.Ala59Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1542C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+606C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.95C>T
  hgvsp: ENSP00000423935.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1949C>T
  hgvsp: ENSP00000416330.2:p.Ala650Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1949C>T
  hgvsp: ENSP00000306306.8:p.Ala650Val
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.353C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26186
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala650Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-135397232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397232
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397232
    reference: chr 5
allele count: 5
allele frequency: 5.419114299958815e-5
allele num: 92266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.354G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1543G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1950G>A
  hgvsp: ENST00000442011.2:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.96G>A
  hgvsp: ENST00000508076.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+607G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1950G>A
  hgvsp: ENST00000305126.8:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.176G>A
  hgvsp: ENST00000503087.1:c.176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2467G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala650Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-135397236-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397236
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397236
    reference: chr 5
allele count: 20
allele frequency: 2.077749381869559e-4
allele num: 96258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1547G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.180G>C
  hgvsp: ENSP00000427137.1:p.Glu61Gln
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1954G>C
  hgvsp: ENSP00000416330.2:p.Glu652Gln
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+611G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.358G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2471G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1954G>C
  hgvsp: ENSP00000306306.8:p.Glu652Gln
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.100G>C
  hgvsp: ENSP00000423935.1:p.Glu34Gln
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu652Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-135397236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397236
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397236
    reference: chr 5
allele count: 1
allele frequency: 1.038874690934779e-5
allele num: 96258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.100G>A
  hgvsp: ENSP00000423935.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1954G>A
  hgvsp: ENSP00000306306.8:p.Glu652Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2471G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1954G>A
  hgvsp: ENSP00000416330.2:p.Glu652Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.358G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.180G>A
  hgvsp: ENSP00000427137.1:p.Glu61Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+611G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1547G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu652Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-135397243-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397243
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397243
    reference: chr 5
allele count: 1
allele frequency: 9.939765023954834e-6
allele num: 100606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2478T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1961T>G
  hgvsp: ENSP00000416330.2:p.Phe654Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.365T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.187T>G
  hgvsp: ENSP00000427137.1:p.Phe63Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1961T>G
  hgvsp: ENSP00000306306.8:p.Phe654Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+618T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.107T>G
  hgvsp: ENSP00000423935.1:p.Phe36Cys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1554T>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe654Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-135397251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397251
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397251
    reference: chr 5
allele count: 1
allele frequency: 9.609840476648088e-6
allele num: 104060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.115G>A
  hgvsp: ENSP00000423935.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1969G>A
  hgvsp: ENSP00000306306.8:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.195G>A
  hgvsp: ENSP00000427137.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1562G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+626G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2486G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.373G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1969G>A
  hgvsp: ENSP00000416330.2:p.Ala657Thr
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala657Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-135397259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397259
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397259
    reference: chr 5
allele count: 2
allele frequency: 1.884374764453154e-5
allele num: 106136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1570G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.381G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1977G>A
  hgvsp: ENST00000305126.8:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.123G>A
  hgvsp: ENST00000508076.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1977G>A
  hgvsp: ENST00000442011.2:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.203G>A
  hgvsp: ENST00000503087.1:c.203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+634G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2494G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala659Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-135397264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397264
    reference: chr 5
allele count: 3
allele frequency: 2.801068140650968e-5
allele num: 107102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.386C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.208C>A
  hgvsp: ENSP00000427137.1:p.Ser70Tyr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2499C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1982C>A
  hgvsp: ENSP00000306306.8:p.Ser661Tyr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1575C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1982C>A
  hgvsp: ENSP00000416330.2:p.Ser661Tyr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.128C>A
  hgvsp: ENSP00000423935.1:p.Ser43Tyr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+639C>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser661Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-135397272-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397272
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397272
    reference: chr 5
allele count: 1
allele frequency: 9.292816652727442e-6
allele num: 107610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1986+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+647A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+4A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+4A>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32891
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1986+4A>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

5-135397277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397277
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397277
    reference: chr 5
allele count: 1
allele frequency: 9.313588525658936e-6
allele num: 107370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+652C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1986+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+9C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+9C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

5-135397290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397290
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397290
    reference: chr 5
allele count: 2
allele frequency: 1.895375284306293e-5
allele num: 105520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+22C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+22C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1987-7C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+22C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+22C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+22C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+665C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+22C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1987-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-135397291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397291
    reference: chr 5
allele count: 10
allele frequency: 9.494872768704899e-5
allele num: 105320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1987-6G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+23G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+666G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1987-6G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-135397292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397292
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397292
    reference: chr 5
allele count: 1
allele frequency: 9.510042604990871e-6
allele num: 105152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+24C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+24C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+24C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1987-5C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+24C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+667C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+24C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+24C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1987-5C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

5-135397300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397300
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397300
    reference: chr 5
allele count: 2
allele frequency: 1.960438354015958e-5
allele num: 102018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+675G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+32G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+32G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+32G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1990G>A
  hgvsp: ENSP00000306306.8:p.Glu664Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+32G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+32G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+32G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23833
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14613
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Glu664Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-135397305-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397305
    reference: chr 5
allele count: 1
allele frequency: 9.996401295533608e-6
allele num: 100036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+37G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+37G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+37G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+37G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1995G>T
  hgvsp: ENSP00000306306.8:p.Gln665His
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+37G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+680G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+37G>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln665His
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: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-135397306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397306
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397306
    reference: chr 5
allele count: 1
allele frequency: 1.010223461429668e-5
allele num: 98988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+38C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+38C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+38C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1996C>T
  hgvsp: ENSP00000306306.8:p.Pro666Ser
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+38C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+681C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+38C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+38C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24755
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro666Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

5-135397308-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397308
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397308
    reference: chr 5
allele count: 1
allele frequency: 1.014733936761781e-5
allele num: 98548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+683T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+40T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+40T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+40T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+40T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+40T>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.1998T>G
  hgvsp: ENST00000305126.8:c.1998T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+40T>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro666Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

5-135397317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397317
    reference: chr 5
allele count: 3
allele frequency: 3.179515441846662e-5
allele num: 94354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+49C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+49C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+692C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2007C>T
  hgvsp: ENST00000305126.8:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+49C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+49C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+49C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+49C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu669Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

5-135397319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397319
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397319
    reference: chr 5
allele count: 1
allele frequency: 1.065757220505169e-5
allele num: 93830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2009G>A
  hgvsp: ENSP00000306306.8:p.Cys670Tyr
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+51G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+694G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys670Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

5-135397322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397322
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397322
    reference: chr 5
allele count: 2
allele frequency: 2.165017644893806e-5
allele num: 92378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+54T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+1T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+54T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+697T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+54T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+54T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+54T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+54T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18153
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2011+1T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

5-135397328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397328
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397328
    reference: chr 5
allele count: 1
allele frequency: 1.118568232662192e-5
allele num: 89400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+60A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+60A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+60A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+7A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+60A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+703A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+60A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+60A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2011+7A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-135397329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397329
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397329
    reference: chr 5
allele count: 2
allele frequency: 2.259938077696671e-5
allele num: 88498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+61T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+8T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+61T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+704T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+61T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+61T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+61T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+61T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21203
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27592
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2011+8T>C
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

5-135397331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397331
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397331
    reference: chr 5
allele count: 1
allele frequency: 1.134687393623057e-5
allele num: 88130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+63G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+10G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+63G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+63G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+63G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+63G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+706G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+63G>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-135397332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397332
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397332
    reference: chr 5
allele count: 1
allele frequency: 1.142961642207288e-5
allele num: 87492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+707A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+64A>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+11A>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-135397333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397333
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397333
    reference: chr 5
allele count: 1
allele frequency: 1.139731023478459e-5
allele num: 87740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+708G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+12G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+65G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+65G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+65G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+65G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+65G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+65G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9258
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

5-135397336-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397336
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397335
    reference: chr 5
allele count: 3
allele frequency: 3.523359875977732e-5
allele num: 85146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+17delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+70delC
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+713delC
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: GC
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

5-135397337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397337
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397337
    reference: chr 5
allele count: 1
allele frequency: 1.178856038100627e-5
allele num: 84828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+69C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+69C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+69C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+712C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+16C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+69C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+69C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+69C>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-135397337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397337
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397337
    reference: chr 5
allele count: 2
allele frequency: 2.357712076201254e-5
allele num: 84828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+16C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+69C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+712C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-135397346-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397346
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397346
    reference: chr 5
allele count: 2
allele frequency: 2.474451290426348e-5
allele num: 80826
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+78C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+78C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+721C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+25C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+78C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+78C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+78C>G
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+78C>G
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-135397346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397346
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397346
    reference: chr 5
allele count: 1
allele frequency: 1.237225645213174e-5
allele num: 80826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+721C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+78C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+25C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

5-135397356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397356
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397356
    reference: chr 5
allele count: 3
allele frequency: 4.025980997369692e-5
allele num: 74516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+35C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+88C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+88C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+731C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+88C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+88C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+88C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+88C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17938
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-135397357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397357
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397357
    reference: chr 5
allele count: 2
allele frequency: 2.74830978947947e-5
allele num: 72772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+89C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+732C>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+36C>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

5-135397364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397364
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397364
    reference: chr 5
allele count: 3
allele frequency: 4.889497359671426e-5
allele num: 61356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+739G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+96G>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+43G>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-135397366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135397366
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135397366
    reference: chr 5
allele count: 1
allele frequency: 1.61363196282192e-5
allele num: 61972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1058+741T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.132+98T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2503+98T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1579+98T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2011+45T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1986+98T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.390+98T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.212+98T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22692
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 16773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-135398320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398320
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398320
    reference: chr 5
allele count: 1
allele frequency: 4.244482173174873e-5
allele num: 23560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.133-32T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.391-32T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-555T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-555T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1580-32T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-555T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1987-32T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2504-32T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-135398329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398329
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398329
    reference: chr 5
allele count: 1
allele frequency: 4.205214465937763e-5
allele num: 23780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1580-23T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-546T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1987-23T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.133-23T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2504-23T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-546T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.391-23T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-546T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15182
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-135398330-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398330
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398330
    reference: chr 5
allele count: 1
allele frequency: 4.194279003439309e-5
allele num: 23842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2504-22G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1580-22G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-545G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-545G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-545G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1987-22G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.391-22G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.133-22G>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-135398357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398357
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398357
    reference: chr 5
allele count: 14
allele frequency: 5.489335006273525e-4
allele num: 25504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1585C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.396C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-518C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1992C>T
  hgvsp: ENST00000442011.2:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.138C>T
  hgvsp: ENST00000508076.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2509C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-518C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-518C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20227
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26063
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser664Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-135398361-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398361
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398361
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 25784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.142A>C
  hgvsp: ENST00000508076.1:c.142A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1996A>C
  hgvsp: ENST00000442011.2:c.1996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-514A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.400A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-514A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2513A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1589A>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-514A>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26424
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg666Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-135398362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398362
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398362
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 25804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-513G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-513G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.143G>A
  hgvsp: ENSP00000423935.1:p.Arg48Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-513G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1997G>A
  hgvsp: ENSP00000416330.2:p.Arg666Lys
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1590G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2514G>A
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.401G>A
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Arg666Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

5-135398363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398363
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398363
    reference: chr 5
allele count: 42
allele frequency: 1.620870639086138e-3
allele num: 25912
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.144G>C
  hgvsp: ENSP00000423935.1:p.Arg48Ser
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.1998G>C
  hgvsp: ENSP00000416330.2:p.Arg666Ser
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-512G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2515G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.402G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-512G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1591G>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-512G>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26449
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24123
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19078
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Arg666Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-135398366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398366
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398366
    reference: chr 5
allele count: 8
allele frequency: 3.071488904246334e-4
allele num: 26046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000504411
  gene symbol: TGFBI
  hgvsc: ENST00000504411.1:n.405T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2518T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000416330
  ensembl transcript: ENST00000442011
  gene symbol: TGFBI
  hgvsc: ENST00000442011.2:c.2001T>C
  hgvsp: ENST00000442011.2:c.2001T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-509T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.147T>C
  hgvsp: ENST00000508076.1:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421540
  ensembl transcript: ENST00000507018
  gene symbol: TGFBI
  hgvsc: ENST00000507018.1:c.*1594T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000306306
  ensembl transcript: ENST00000305126
  gene symbol: TGFBI
  hgvsc: ENST00000305126.8:c.2012-509T>C
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000427137
  ensembl transcript: ENST00000503087
  gene symbol: TGFBI
  hgvsc: ENST00000503087.1:c.213-509T>C
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26415
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19737
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser667Ser
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-135398370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135398370
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 135398370
    reference: chr 5
allele count: 6
allele frequency: 2.292000916800367e-4
allele num: 26178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000421440
  ensembl transcript: ENST00000514554
  gene symbol: TGFBI
  hgvsc: ENST00000514554.1:c.1059-505C>T
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000120708
  ensembl protein: ENSP00000423935
  ensembl transcript: ENST00000508076
  gene symbol: TGFBI
  hgvsc: ENST00000508076.1:c.151C>T
  hgvsp: ENSP00000423935.1:p.Arg51Ter
  variant of: http://identifiers.org/hgnc/11771
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120708
  ensembl transcript: ENST00000506699
  gene symbol: TGFBI
  hgvsc: ENST00000506699.1:n.2522C>T
  variant of: http://identifiers.org/hgnc/11771
canonical: true
consequence: stop gained
filter: PASS
hgvs: p.Arg669Ter
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 7539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.167363486633726e-5
allele num: 63144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

DP
type: SiteQuality
SIO_000300: 1.163279e6

FS
type: SiteQuality
SIO_000300: 3.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

GenotypeQuality
all individuals: 4777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.153316106804479e-4
allele num: 9288
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 7.09e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.160526e6

GenotypeQuality
all individuals: 1816
bin: 2.75e1
variant carriers: 499

GenotypeQuality
all individuals: 3072
bin: 3.75e1
variant carriers: 1607

GenotypeQuality
all individuals: 3796
bin: 6.25e1
variant carriers: 1544

GenotypeQuality
all individuals: 723
bin: 1.75e1
variant carriers: 390

GenotypeQuality
all individuals: 713
bin: 7.25e1
variant carriers: 624

GenotypeQuality
all individuals: 3073
bin: 3.25e1
variant carriers: 1127

GenotypeQuality
all individuals: 1581
bin: 6.75e1
variant carriers: 1304

GenotypeQuality
all individuals: 1029
bin: 5.75e1
variant carriers: 959

GenotypeQuality
all individuals: 1604
bin: 4.25e1
variant carriers: 1018

GenotypeQuality
all individuals: 2674
bin: 4.75e1
variant carriers: 1984

GenotypeQuality
all individuals: 649
bin: 9.25e1
variant carriers: 608

GenotypeQuality
all individuals: 29422
bin: 9.75e1
variant carriers: 29045

Latino
type: Population
allele count: 5864
allele frequency: 5.682170542635659e-1
allele num: 10320
num of homozygotes: 1608

South Asian
type: Population
allele count: 7104
allele frequency: 5.205158264947245e-1
allele num: 13648
num of homozygotes: 1818

European (Non-Finnish)
type: Population
allele count: 30770
allele frequency: 5.023345414177033e-1
allele num: 61254
num of homozygotes: 7571

European (Finnish)
type: Population
allele count: 3130
allele frequency: 5.02892030848329e-1
allele num: 6224
num of homozygotes: 772

Other
type: Population
allele count: 404
allele frequency: 4.987654320987654e-1
allele num: 810
num of homozygotes: 99

African
type: Population
allele count: 6788
allele frequency: 7.346320346320346e-1
allele num: 9240
num of homozygotes: 2462

East Asian
type: Population
allele count: 4794
allele frequency: 6.11791730474732e-1
allele num: 7836
num of homozygotes: 1417

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.85e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.417156e6

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 2.375e1

GenotypeQuality
all individuals: 9189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9817
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614205004035513e-5
allele num: 61950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.360958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 2.571e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
all individuals: 9199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8011
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626333593546708e-5
allele num: 61488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.358233e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.026e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 6702
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11622
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 7.37253e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.846e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6734
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12160
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 1

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4698
bin: 9.75e1
variant carriers: 11

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.873563218390805e-3
allele num: 348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 5.467468562055768e-4
allele num: 18290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.749e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 7.38105e5

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

GenotypeQuality
all individuals: 4697
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 9.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.52932e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 22912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.520161290322581e-4
allele num: 3968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

FS
type: SiteQuality
SIO_000300: 2.783e0

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

DP
type: SiteQuality
SIO_000300: 7.80125e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.021e0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4678
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2474
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8776
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20096
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.747126436781609e-4
allele num: 8700
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.06879e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

QD
type: SiteQuality
SIO_000300: 1.359e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

GenotypeQuality
all individuals: 2474
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4713
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.80517503805175e-4
allele num: 2628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.48328025477707e-4
allele num: 20096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

DP
type: SiteQuality
SIO_000300: 8.06879e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

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: 7.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.364e0

DP
type: SiteQuality
SIO_000300: 8.11083e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.84e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.756574004507889e-3
allele num: 2662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.917387883556255e-5
allele num: 20336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

DP
type: SiteQuality
SIO_000300: 8.15656e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2576
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
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.132572939912389e-5
allele num: 24198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.91333e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 1.028e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.47819660014782e-3
allele num: 2706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 1.028e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

DP
type: SiteQuality
SIO_000300: 8.91333e5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.984698756773988e-5
allele num: 25096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e0

QD
type: SiteQuality
SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 9.05257e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.274e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.155172413793103e-3
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 9.49015e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
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bin: 5.25e1
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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bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30650
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.041362530413625e-4
allele num: 9864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

African
type: Population
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
allele num: 498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 1.207e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.338e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 9.82915e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.450980392156863e-4
allele num: 4080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.716e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

DP
type: SiteQuality
SIO_000300: 1.007767e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 6.02e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 951
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 537
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.851927903262605e-5
allele num: 35064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.231e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 1.04007e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.866169021594241e-4
allele num: 37510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.0723e6

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.182152666217547e-5
allele num: 38594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

DP
type: SiteQuality
SIO_000300: 1.088299e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.755001755001755e-4
allele num: 5698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 1.108884e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.02e0

QD
type: SiteQuality
SIO_000300: 3.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-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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variant carriers: 0

GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 1817
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.125812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 2.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 1.0837e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 317
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 6
allele frequency: 5.177770107007249e-4
allele num: 11588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.189e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.36e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

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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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.451890403888339e-5
allele num: 46498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 1.200029e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
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

African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.083299305839118e-5
allele num: 48980
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.078e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.542e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.041649652919559e-5
allele num: 48980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.542e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 2.078e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.238411e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
all individuals: 1006
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 19

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: 502
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.950248756218905e-5
allele num: 50250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.245316012990258e-4
allele num: 8006
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.120838070488874e-5
allele num: 12314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.20918984280532e-3
allele num: 6616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.143e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.262281e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 557
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.953659203688509e-5
allele num: 51186
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.20666987333654e-4
allele num: 12474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 3.621e0

DP
type: SiteQuality
SIO_000300: 1.275835e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

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: 503
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.867553131886602e-5
allele num: 53546
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.36318407960199e-3
allele num: 8040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 1.311915e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.867553131886602e-5
allele num: 53546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.311915e6

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 643
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.97e-2

DP
type: SiteQuality
SIO_000300: 1.349015e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 2.246e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.598e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-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
all individuals: 4704
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.453786523553965e-5
allele num: 13416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.381773e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.365e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.982e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.332453438920662e-5
allele num: 13638
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.003210272873194e-4
allele num: 9968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.401927e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

QD
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-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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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.298322224775914e-4
allele num: 8702
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.667667267026883e-5
allele num: 59964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
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VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.410094e6

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 8.32e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 450
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661129568106312e-5
allele num: 60200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.410947e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.706e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664558226246754e-5
allele num: 60076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.407244e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 3.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.849e1

VQSLOD
type: SiteQuality
SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 6.18e0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693594824374217e-5
allele num: 59046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.303101381287464e-4
allele num: 7674
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.377377e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.082e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.506e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.346e0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 4701
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.03951367781155e-4
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.312079555425563e-5
allele num: 13676
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.487523340689187e-5
allele num: 58910
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.372701e6

QD
type: SiteQuality
SIO_000300: 9.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11425
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variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 33999
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 1201
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GenotypeQuality
all individuals: 503
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variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699986400108799e-5
allele num: 58824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.367195e6

QD
type: SiteQuality
SIO_000300: 7.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: -8.762e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

GenotypeQuality
all individuals: 219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 872
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GenotypeQuality
all individuals: 29744
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variant carriers: 0

GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 524
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GenotypeQuality
all individuals: 4695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.060220525869381e-4
allele num: 9432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.75377060680463e-5
allele num: 57020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.223e0

FS
type: SiteQuality
SIO_000300: 1.262e0

DP
type: SiteQuality
SIO_000300: 1.314866e6

QD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16791
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 982
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GenotypeQuality
all individuals: 27062
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GenotypeQuality
all individuals: 643
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GenotypeQuality
all individuals: 729
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.392369813422445e-4
allele num: 7182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.957e0

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

QD
type: SiteQuality
SIO_000300: 9.31e0

DP
type: SiteQuality
SIO_000300: 1.275743e6

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4693
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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: 234
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GenotypeQuality
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GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 1773
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.544892108042855e-5
allele num: 13254
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

DP
type: SiteQuality
SIO_000300: 1.252007e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

FS
type: SiteQuality
SIO_000300: 2.242e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
all individuals: 835
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 307
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

QD
type: SiteQuality
SIO_000300: 2.476e1

DP
type: SiteQuality
SIO_000300: 1.242172e6

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
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GenotypeQuality
all individuals: 1434
bin: 6.75e1
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GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
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GenotypeQuality
all individuals: 493
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GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 1411
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 508
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52554
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.859017236943658e-4
allele num: 7774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.152199e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 8.98e0

FS
type: SiteQuality
SIO_000300: 3.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52290
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.295672454003628e-4
allele num: 7718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 6.644e0

DP
type: SiteQuality
SIO_000300: 1.141025e6

MQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.682e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 1544
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.444987775061124e-4
allele num: 8180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.159e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.108005e6

GenotypeQuality
all individuals: 1098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 8.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.0517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4691
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.386962552011096e-4
allele num: 7210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.030838419531e-5
allele num: 12452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.03774e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 1.453e1

VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 9623
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variant carriers: 0

GenotypeQuality
all individuals: 514
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variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49012
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.038585209003216e-5
allele num: 12440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.030248e6

FS
type: SiteQuality
SIO_000300: 1.8042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 28117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
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variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 495
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GenotypeQuality
all individuals: 300
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variant carriers: 0

GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 4014
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9027
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variant carriers: 0

GenotypeQuality
all individuals: 511
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variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.623903864891198e-4
allele num: 6158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48666
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 1.022698e6

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4473
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.048508685676827e-5
allele num: 48816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.019766e6

QD
type: SiteQuality
SIO_000300: 1.038e1

VQSLOD
type: SiteQuality
SIO_000300: -1.833e0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4751
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.467917077986179e-4
allele num: 12156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

QD
type: SiteQuality
SIO_000300: 1.356e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 9.86487e5

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.119721892487706e-5
allele num: 47176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.433e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 9.80997e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
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GenotypeQuality
all individuals: 1253
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.239443784975411e-5
allele num: 47176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

FS
type: SiteQuality
SIO_000300: 2.433e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 9.80997e5

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 7.074e0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 9.35542e5

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
all individuals: 5043
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 1239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4708
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

FS
type: SiteQuality
SIO_000300: 7.074e0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.35542e5

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.5e0
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GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 2564
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variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2299
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.639915522703273e-4
allele num: 11364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.85844e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 1.925e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 6310
bin: 7.5e0
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GenotypeQuality
all individuals: 106
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variant carriers: 1

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24478
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.666111296234589e-4
allele num: 6002
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.089427496865859e-4
allele num: 4786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 8.78318e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.539e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 2323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4888
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9006
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variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
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variant carriers: 0

GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 6950
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variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.25022502250225e-4
allele num: 4444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.968253968253968e-4
allele num: 5040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 4.317e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 8.45943e5

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 4508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8282
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variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 7005
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GenotypeQuality
all individuals: 923
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GenotypeQuality
all individuals: 2320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.210433244916003e-4
allele num: 4524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.136e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.44738e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.247e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 11718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 2783
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variant carriers: 0

GenotypeQuality
all individuals: 1295
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GenotypeQuality
all individuals: 591
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 8.82265e5

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 1417
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GenotypeQuality
all individuals: 722
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.505703422053231e-5
allele num: 10520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.43e-2

MQ
type: SiteQuality
SIO_000300: 5.851e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 3.968e0

DP
type: SiteQuality
SIO_000300: 9.00423e5

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.473285335354301e-5
allele num: 10556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.02615e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 3.522e0

VQSLOD
type: SiteQuality
SIO_000300: -6.921e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19527
bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6022
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.125e-3
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 9.512279488066413e-4
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.875968992248062e-3
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.54e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.744e0

DP
type: SiteQuality
SIO_000300: 9.50316e5

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.233e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 24161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11714
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.52926e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.741e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

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

GenotypeQuality
all individuals: 726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6011
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 2013
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GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.53381e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -3.094e0

QD
type: SiteQuality
SIO_000300: 3.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 496
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2007
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 40
bin: 4.75e1
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GenotypeQuality
all individuals: 6056
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 665
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 443
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variant carriers: 3

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 2

GenotypeQuality
all individuals: 2039
bin: 6.25e1
variant carriers: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 2.962586761469443e-3
allele num: 11814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.574803149606299e-3
allele num: 1270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 6.060606060606061e-3
allele num: 660
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.846153846153846e-3
allele num: 260
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.54315e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

GenotypeQuality
all individuals: 1201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6011
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2166
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
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GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.5e0
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GenotypeQuality
all individuals: 24035
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.896091044037606e-4
allele num: 8084
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 9.54387e5

FS
type: SiteQuality
SIO_000300: 1.228e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0