1-151743621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743621
    reference: chr 1
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.87C>T
  hgvsp: ENST00000400999.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-583G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.538C>T
  hgvsp: ENSP00000415904.2:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.499C>T
  hgvsp: ENSP00000357820.5:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.499C>T
  hgvsp: ENSP00000313922.5:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.87C>T
  hgvsp: ENST00000479764.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro167Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-151743625-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743625
    reference: chr 1
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.91T>G
  hgvsp: ENSP00000383784.1:p.Trp31Gly
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*36T>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.503T>G
  hgvsp: ENSP00000357820.5:p.Leu168Trp
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.503T>G
  hgvsp: ENSP00000313922.5:p.Leu168Trp
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.542T>G
  hgvsp: ENSP00000415904.2:p.Leu181Trp
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.91T>G
  hgvsp: ENSP00000463055.1:p.Trp31Gly
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-587A>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu168Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-151743626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743626
    reference: chr 1
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.92G>A
  hgvsp: ENSP00000383784.1:p.Trp31Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.92G>A
  hgvsp: ENSP00000463055.1:p.Trp31Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.543G>A
  hgvsp: ENST00000453029.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.504G>A
  hgvsp: ENST00000321531.5:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.504G>A
  hgvsp: ENST00000315067.8:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-588C>T
  variant of: http://identifiers.org/hgnc/11713
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp31Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-151743630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743630
    reference: chr 1
allele count: 3
allele frequency: 2.489915840844579e-5
allele num: 120486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.508A>G
  hgvsp: ENSP00000357820.5:p.Asn170Asp
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.96A>G
  hgvsp: ENST00000400999.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.96A>G
  hgvsp: ENST00000479764.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.508A>G
  hgvsp: ENSP00000313922.5:p.Asn170Asp
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-592T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.547A>G
  hgvsp: ENSP00000415904.2:p.Asn183Asp
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn170Asp
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

1-151743634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743634
    reference: chr 1
allele count: 2
allele frequency: 1.659503144758459e-5
allele num: 120518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.100T>C
  hgvsp: ENSP00000383784.1:p.Ser34Pro
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.551T>C
  hgvsp: ENSP00000415904.2:p.Val184Ala
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*45T>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.512T>C
  hgvsp: ENSP00000313922.5:p.Val171Ala
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.512T>C
  hgvsp: ENSP00000357820.5:p.Val171Ala
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-596A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.100T>C
  hgvsp: ENSP00000463055.1:p.Ser34Pro
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18789
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val171Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-151743644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743644
    reference: chr 1
allele count: 3
allele frequency: 2.488428806051859e-5
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.522G>A
  hgvsp: ENSP00000313922.5:p.Met174Ile
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*55G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.110G>A
  hgvsp: ENSP00000383784.1:p.Trp37Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.110G>A
  hgvsp: ENSP00000463055.1:p.Trp37Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-606C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.561G>A
  hgvsp: ENSP00000415904.2:p.Met187Ile
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.522G>A
  hgvsp: ENSP00000357820.5:p.Met174Ile
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp37Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-151743651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743651
    reference: chr 1
allele count: 3
allele frequency: 2.488511372496972e-5
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-613G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.529C>A
  hgvsp: ENSP00000313922.5:p.Pro177Thr
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.568C>A
  hgvsp: ENSP00000415904.2:p.Pro190Thr
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*62C>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.529C>A
  hgvsp: ENSP00000357820.5:p.Pro177Thr
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.117C>A
  hgvsp: ENST00000400999.1:c.117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.117C>A
  hgvsp: ENST00000479764.1:c.117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro177Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-151743654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743654
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.120C>T
  hgvsp: ENST00000479764.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.571C>T
  hgvsp: ENSP00000415904.2:p.Leu191Phe
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.120C>T
  hgvsp: ENST00000400999.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.532C>T
  hgvsp: ENSP00000357820.5:p.Leu178Phe
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.532C>T
  hgvsp: ENSP00000313922.5:p.Leu178Phe
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-616G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu178Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-151743671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743671
    reference: chr 1
allele count: 2
allele frequency: 1.660467587672689e-5
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.137C>T
  hgvsp: ENSP00000383784.1:p.Ala46Val
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.549C>T
  hgvsp: ENST00000315067.8:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.549C>T
  hgvsp: ENST00000321531.5:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-633G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.137C>T
  hgvsp: ENSP00000463055.1:p.Ala46Val
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.588C>T
  hgvsp: ENST00000453029.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18779
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala46Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-151743674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743674
    reference: chr 1
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.140C>T
  hgvsp: ENSP00000383784.1:p.Thr47Ile
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.591C>T
  hgvsp: ENST00000453029.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.552C>T
  hgvsp: ENST00000321531.5:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.140C>T
  hgvsp: ENSP00000463055.1:p.Thr47Ile
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.552C>T
  hgvsp: ENST00000315067.8:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-636G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr47Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-151743677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743677
    reference: chr 1
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-639C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.143G>A
  hgvsp: ENSP00000383784.1:p.Cys48Tyr
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.555G>A
  hgvsp: ENST00000315067.8:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.555G>A
  hgvsp: ENST00000321531.5:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.143G>A
  hgvsp: ENSP00000463055.1:p.Cys48Tyr
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.594G>A
  hgvsp: ENST00000453029.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys48Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-151743693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743693
    reference: chr 1
allele count: 2
allele frequency: 1.676445934618609e-5
allele num: 119300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.159T>C
  hgvsp: ENST00000479764.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.571T>C
  hgvsp: ENSP00000357820.5:p.Ter191ArgextTer30
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.571T>C
  hgvsp: ENSP00000313922.5:p.Ter191ArgextTer30
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*104T>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-655A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.159T>C
  hgvsp: ENST00000400999.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.610T>C
  hgvsp: ENSP00000415904.2:p.Ter204ArgextTer30
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18777
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter191ArgextTer30
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

1-151743708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743708
    reference: chr 1
allele count: 1
allele frequency: 8.481620328747603e-6
allele num: 117902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.174C>T
  hgvsp: ENST00000479764.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-670G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.174C>T
  hgvsp: ENST00000400999.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*13C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*13C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*13C>T
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser58Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-151743711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743711
    reference: chr 1
allele count: 3
allele frequency: 2.550326441784548e-5
allele num: 117632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.177C>A
  hgvsp: ENSP00000463055.1:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-673G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.177C>A
  hgvsp: ENSP00000383784.1:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*16C>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*122C>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*16C>A
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn59Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-151743711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743711
    reference: chr 1
allele count: 6
allele frequency: 5.100652883569097e-5
allele num: 117632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.177C>T
  hgvsp: ENST00000400999.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*16C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*16C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-673G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.177C>T
  hgvsp: ENST00000479764.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn59Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-151743713-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743714
    reference: chr 1
allele count: 1
allele frequency: 8.520355128401752e-6
allele num: 117366
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*127dupT
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.182dupT
  hgvsp: ENSP00000383784.1:p.Leu61PhefsTer24
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*21dupT
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*21dupT
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*21dupT
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-676dupA
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.182dupT
  hgvsp: ENSP00000463055.1:p.Leu61PhefsTer24
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu61PhefsTer24
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-151743726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743726
    reference: chr 1
allele count: 1
allele frequency: 8.581775741036335e-6
allele num: 116526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.192G>A
  hgvsp: ENSP00000463055.1:p.Trp64Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*31G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-688C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.192G>A
  hgvsp: ENSP00000383784.1:p.Trp64Ter
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*31G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*31G>A
  variant of: http://identifiers.org/hgnc/8097
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp64Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-151743735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743735
    reference: chr 1
allele count: 241
allele frequency: 2.077944473185032e-3
allele num: 115980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.201A>C
  hgvsp: ENSP00000463055.1:p.Ter67CysextTer21
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*40A>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*40A>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*40A>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.201A>C
  hgvsp: ENSP00000383784.1:p.Ter67CysextTer21
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*146A>C
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-697T>G
  variant of: http://identifiers.org/hgnc/11713
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18780
  bin: 9.75e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ter67CysextTer21
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-151743739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743739
    reference: chr 1
allele count: 15
allele frequency: 1.297151455403933e-4
allele num: 115638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*44A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*44A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*150A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-701T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*44A>G
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-151743743-AATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743740
    reference: chr 1
allele count: 1
allele frequency: 8.672274737663689e-6
allele num: 115310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*50_*52delTCA
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.*10_*12delTCA
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-708_*1203-706delGAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*50_*52delTCA
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*50_*52delTCA
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*156_*158delTCA
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.*10_*12delTCA
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18626
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: AATC
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-151743746-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743744
    reference: chr 1
allele count: 1
allele frequency: 8.703977717817042e-6
allele num: 114890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*158_*159delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*52_*53delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*52_*53delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*52_*53delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.*12_*13delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.*12_*13delAG
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-710_*1203-709delCT
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: CAG
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-151743755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743755
    reference: chr 1
allele count: 2
allele frequency: 1.75821084464449e-5
allele num: 113752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-717C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*60G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*60G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*60G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18594
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-151743772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151743772
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151743772
    reference: chr 1
allele count: 1
allele frequency: 8.930325599671364e-6
allele num: 111978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463055
  ensembl transcript: ENST00000479764
  gene symbol: OAZ3
  hgvsc: ENST00000479764.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1203-734T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000415904
  ensembl transcript: ENST00000453029
  gene symbol: OAZ3
  hgvsc: ENST00000453029.2:c.*77A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000313922
  ensembl transcript: ENST00000321531
  gene symbol: OAZ3
  hgvsc: ENST00000321531.5:c.*77A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000357820
  ensembl transcript: ENST00000315067
  gene symbol: OAZ3
  hgvsc: ENST00000315067.8:c.*77A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000383784
  ensembl transcript: ENST00000400999
  gene symbol: OAZ3
  hgvsc: ENST00000400999.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/8097
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143450
  ensembl protein: ENSP00000463692
  ensembl transcript: ENST00000582415
  gene symbol: OAZ3
  hgvsc: ENST00000582415.1:c.*183A>G
  variant of: http://identifiers.org/hgnc/8097
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-151746879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746879
    reference: chr 1
allele count: 3
allele frequency: 2.567174396714017e-5
allele num: 116860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*39+10G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*39+10G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*49G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1202+10G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1202+10G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*39+10G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11692
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-151746883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746883
    reference: chr 1
allele count: 1
allele frequency: 8.530967411704487e-6
allele num: 117220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*45T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*45T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*45T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*39+6T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*39+6T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*39+6T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1202+6T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1202+6T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*45T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15291
  bin: 6.25e1
  variant carriers: 0
hgvs: c.*39+6T>C
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-151746891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746891
    reference: chr 1
allele count: 1
allele frequency: 8.517597356137781e-6
allele num: 117404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1200T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*37T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1200T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
hgvs: c.*37T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-151746906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746906
    reference: chr 1
allele count: 1
allele frequency: 8.477018802027703e-6
allele num: 117966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1185A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1185A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*22A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-151746918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746918
    reference: chr 1
allele count: 1
allele frequency: 8.431418839162254e-6
allele num: 118604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1173T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1173T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*10T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-151746918-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746918
    reference: chr 1
allele count: 1
allele frequency: 8.431418839162254e-6
allele num: 118604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1173T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1173T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*10T>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

1-151746921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746921
    reference: chr 1
allele count: 1
allele frequency: 8.419634587858886e-6
allele num: 118770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1170G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1170G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9393
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-151746938-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746938
    reference: chr 1
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1153A>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1676A>C
  hgvsp: ENSP00000357815.3:p.Tyr559Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1541A>C
  hgvsp: ENSP00000357817.3:p.Tyr514Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1676A>C
  hgvsp: ENSP00000357819.6:p.Tyr559Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1676A>C
  hgvsp: ENSP00000357812.1:p.Tyr559Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1664A>C
  hgvsp: ENSP00000357813.1:p.Tyr555Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.1004A>C
  hgvsp: ENSP00000416645.2:p.Tyr335Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1153A>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1676A>C
  hgvsp: ENSP00000395718.2:p.Tyr559Ser
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr559Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

1-151746943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746943
    reference: chr 1
allele count: 1
allele frequency: 8.350033400133601e-6
allele num: 119760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.999T>C
  hgvsp: ENST00000440583.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1671T>C
  hgvsp: ENST00000368827.6:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1148T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1659T>C
  hgvsp: ENST00000368823.1:c.1659T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1671T>C
  hgvsp: ENST00000368824.3:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1536T>C
  hgvsp: ENST00000368825.3:c.1536T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1148T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1671T>C
  hgvsp: ENST00000458431.2:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1671T>C
  hgvsp: ENST00000368822.1:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp557Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-151746951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746951
    reference: chr 1
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1528C>T
  hgvsp: ENSP00000357817.3:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1663C>T
  hgvsp: ENSP00000395718.2:p.Leu555Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1663C>T
  hgvsp: ENSP00000357815.3:p.Leu555Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1663C>T
  hgvsp: ENSP00000357812.1:p.Leu555Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1663C>T
  hgvsp: ENSP00000357819.6:p.Leu555Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1140C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1140C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1651C>T
  hgvsp: ENSP00000357813.1:p.Leu551Phe
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.991C>T
  hgvsp: ENSP00000416645.2:p.Leu331Phe
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu555Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-151746952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746952
    reference: chr 1
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1662C>T
  hgvsp: ENST00000368824.3:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1662C>T
  hgvsp: ENST00000368827.6:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1139C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1139C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1650C>T
  hgvsp: ENST00000368823.1:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1662C>T
  hgvsp: ENST00000458431.2:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1527C>T
  hgvsp: ENST00000368825.3:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1662C>T
  hgvsp: ENST00000368822.1:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.990C>T
  hgvsp: ENST00000440583.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn554Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-151746962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746962
    reference: chr 1
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1129G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1640G>A
  hgvsp: ENSP00000357813.1:p.Gly547Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1652G>A
  hgvsp: ENSP00000357812.1:p.Gly551Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1129G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1652G>A
  hgvsp: ENSP00000357815.3:p.Gly551Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1652G>A
  hgvsp: ENSP00000357819.6:p.Gly551Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1517G>A
  hgvsp: ENSP00000357817.3:p.Gly506Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.980G>A
  hgvsp: ENSP00000416645.2:p.Gly327Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1652G>A
  hgvsp: ENSP00000395718.2:p.Gly551Asp
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly551Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-151746968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746968
    reference: chr 1
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1634T>C
  hgvsp: ENSP00000357813.1:p.Met545Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1646T>C
  hgvsp: ENSP00000395718.2:p.Met549Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.974T>C
  hgvsp: ENSP00000416645.2:p.Met325Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1646T>C
  hgvsp: ENSP00000357819.6:p.Met549Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1646T>C
  hgvsp: ENSP00000357815.3:p.Met549Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1123T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1646T>C
  hgvsp: ENSP00000357812.1:p.Met549Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1511T>C
  hgvsp: ENSP00000357817.3:p.Met504Thr
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1123T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met549Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-151746969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746969
    reference: chr 1
allele count: 30
allele frequency: 2.49887550602229e-4
allele num: 120054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1645A>G
  hgvsp: ENSP00000357815.3:p.Met549Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1633A>G
  hgvsp: ENSP00000357813.1:p.Met545Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1645A>G
  hgvsp: ENSP00000395718.2:p.Met549Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1122A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.973A>G
  hgvsp: ENSP00000416645.2:p.Met325Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1510A>G
  hgvsp: ENSP00000357817.3:p.Met504Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1645A>G
  hgvsp: ENSP00000357812.1:p.Met549Val
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1122A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1645A>G
  hgvsp: ENSP00000357819.6:p.Met549Val
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met549Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

1-151746973-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746973
    reference: chr 1
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1641T>A
  hgvsp: ENST00000368827.6:c.1641T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1629T>A
  hgvsp: ENST00000368823.1:c.1629T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1641T>A
  hgvsp: ENST00000368822.1:c.1641T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.969T>A
  hgvsp: ENST00000440583.2:c.969T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1118T>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1641T>A
  hgvsp: ENST00000458431.2:c.1641T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1506T>A
  hgvsp: ENST00000368825.3:c.1506T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1641T>A
  hgvsp: ENST00000368824.3:c.1641T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1118T>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7624
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala547Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-151746983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746983
    reference: chr 1
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-3T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-3T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9401
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1634-3T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

1-151746984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746984
    reference: chr 1
allele count: 15
allele frequency: 1.249312877917146e-4
allele num: 120066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-4A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-4A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16167
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1634-4A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

1-151746989-GAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746987
    reference: chr 1
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-11_1634-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-11_1499-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-11_*1111-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-11_962-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-11_1622-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-11_*1111-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-11_1634-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-11_1634-10delAT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-11_1634-10delAT
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: GAT
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-151746994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746994
    reference: chr 1
allele count: 6
allele frequency: 4.997667755047644e-5
allele num: 120056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-14T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-14T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-151746995-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746992
    reference: chr 1
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-18_*1111-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-18_962-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-18_1634-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-18_1634-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-18_*1111-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-18_1499-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-18_1634-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-18_1622-16delCTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-18_1634-16delCTT
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: TAAG
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-151746999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151746999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151746999
    reference: chr 1
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-19T>C
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-19T>C
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-151747004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747004
    reference: chr 1
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-24C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-24C>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-151747006-AAGTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747006
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747002
    reference: chr 1
allele count: 5
allele frequency: 4.16576408444837e-5
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-30_1634-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-30_1634-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-30_1499-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-30_1622-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-30_*1111-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-30_1634-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-30_1634-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-30_962-27delAACT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-30_*1111-27delAACT
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: AAGTT
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-151747008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747008
    reference: chr 1
allele count: 3
allele frequency: 2.500375056258439e-5
allele num: 119982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-28C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-28C>T
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-151747026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747026
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747026
    reference: chr 1
allele count: 2
allele frequency: 1.669811478284102e-5
allele num: 119774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1499-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1111-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.962-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1622-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1634-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1634-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1634-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1111-46G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1634-46G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-151747138-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747136
    reference: chr 1
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1498+46_1498+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1633+46_1633+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1633+46_1633+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1633+46_1633+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1110+46_*1110+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1621+46_1621+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1110+46_*1110+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.961+46_961+47delTT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1633+46_1633+47delTT
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: GAA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-151747177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747177
    reference: chr 1
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1633+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1633+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1633+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1633+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1621+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1110+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1498+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.961+9A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1110+9A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-151747181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747181
    reference: chr 1
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.961+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1110+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1633+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1633+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1633+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1633+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1110+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1498+5A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1621+5A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36523
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1633+5A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-151747193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747193
    reference: chr 1
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1626C>T
  hgvsp: ENST00000458431.2:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.954C>T
  hgvsp: ENST00000440583.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1626C>T
  hgvsp: ENST00000368827.6:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1491C>T
  hgvsp: ENST00000368825.3:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1103C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1626C>T
  hgvsp: ENST00000368824.3:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1614C>T
  hgvsp: ENST00000368823.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1626C>T
  hgvsp: ENST00000368822.1:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1103C>T
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser542Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-151747195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747195
    reference: chr 1
allele count: 4
allele frequency: 3.312190517198549e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1612A>G
  hgvsp: ENSP00000357813.1:p.Ser538Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1624A>G
  hgvsp: ENSP00000395718.2:p.Ser542Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1489A>G
  hgvsp: ENSP00000357817.3:p.Ser497Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1101A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1624A>G
  hgvsp: ENSP00000357812.1:p.Ser542Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1101A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.952A>G
  hgvsp: ENSP00000416645.2:p.Ser318Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1624A>G
  hgvsp: ENSP00000357819.6:p.Ser542Gly
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1624A>G
  hgvsp: ENSP00000357815.3:p.Ser542Gly
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser542Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-151747213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747213
    reference: chr 1
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1606C>G
  hgvsp: ENSP00000357812.1:p.His536Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1606C>G
  hgvsp: ENSP00000357815.3:p.His536Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1594C>G
  hgvsp: ENSP00000357813.1:p.His532Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1606C>G
  hgvsp: ENSP00000357819.6:p.His536Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1471C>G
  hgvsp: ENSP00000357817.3:p.His491Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.934C>G
  hgvsp: ENSP00000416645.2:p.His312Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1083C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1606C>G
  hgvsp: ENSP00000395718.2:p.His536Asp
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1083C>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His536Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-151747214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747214
    reference: chr 1
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1082A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1605A>G
  hgvsp: ENST00000458431.2:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1082A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1605A>G
  hgvsp: ENST00000368827.6:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1470A>G
  hgvsp: ENST00000368825.3:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1605A>G
  hgvsp: ENST00000368822.1:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1593A>G
  hgvsp: ENST00000368823.1:c.1593A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.933A>G
  hgvsp: ENST00000440583.2:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1605A>G
  hgvsp: ENST00000368824.3:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr535Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-151747218-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747218
    reference: chr 1
allele count: 18
allele frequency: 1.490461049284579e-4
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1466T>G
  hgvsp: ENSP00000357817.3:p.Ile489Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1078T>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1601T>G
  hgvsp: ENSP00000357812.1:p.Ile534Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1601T>G
  hgvsp: ENSP00000395718.2:p.Ile534Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.929T>G
  hgvsp: ENSP00000416645.2:p.Ile310Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1078T>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1589T>G
  hgvsp: ENSP00000357813.1:p.Ile530Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1601T>G
  hgvsp: ENSP00000357819.6:p.Ile534Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1601T>G
  hgvsp: ENSP00000357815.3:p.Ile534Arg
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile534Arg
num of homozygotes: 1
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-151747223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747223
    reference: chr 1
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1596A>G
  hgvsp: ENST00000368822.1:c.1596A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1596A>G
  hgvsp: ENST00000368827.6:c.1596A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.924A>G
  hgvsp: ENST00000440583.2:c.924A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1584A>G
  hgvsp: ENST00000368823.1:c.1584A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1596A>G
  hgvsp: ENST00000458431.2:c.1596A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1596A>G
  hgvsp: ENST00000368824.3:c.1596A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1461A>G
  hgvsp: ENST00000368825.3:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1073A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1073A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly532Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-151747225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747225
    reference: chr 1
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1459G>A
  hgvsp: ENSP00000357817.3:p.Gly487Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.922G>A
  hgvsp: ENSP00000416645.2:p.Gly308Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1071G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1594G>A
  hgvsp: ENSP00000357815.3:p.Gly532Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1594G>A
  hgvsp: ENSP00000357819.6:p.Gly532Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1594G>A
  hgvsp: ENSP00000395718.2:p.Gly532Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1582G>A
  hgvsp: ENSP00000357813.1:p.Gly528Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1594G>A
  hgvsp: ENSP00000357812.1:p.Gly532Arg
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1071G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly532Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-151747232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747232
    reference: chr 1
allele count: 4
allele frequency: 3.312135665076842e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1064G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1452G>A
  hgvsp: ENST00000368825.3:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1587G>A
  hgvsp: ENST00000368822.1:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1587G>A
  hgvsp: ENST00000368827.6:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1587G>A
  hgvsp: ENST00000368824.3:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1587G>A
  hgvsp: ENST00000458431.2:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1575G>A
  hgvsp: ENST00000368823.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.915G>A
  hgvsp: ENST00000440583.2:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1064G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys529Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-151747243-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747241
    reference: chr 1
allele count: 18
allele frequency: 1.490559788009275e-4
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1562_1563delCT
  hgvsp: ENSP00000357813.1:p.Thr521ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1574_1575delCT
  hgvsp: ENSP00000357812.1:p.Thr525ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1574_1575delCT
  hgvsp: ENSP00000395718.2:p.Thr525ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1051_*1052delCT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1051_*1052delCT
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1574_1575delCT
  hgvsp: ENSP00000357819.6:p.Thr525ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1574_1575delCT
  hgvsp: ENSP00000357815.3:p.Thr525ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.902_903delCT
  hgvsp: ENSP00000416645.2:p.Thr301ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1439_1440delCT
  hgvsp: ENSP00000357817.3:p.Thr480ArgfsTer27
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr525ArgfsTer27
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAG
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-151747253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747253
    reference: chr 1
allele count: 4
allele frequency: 3.312519668085529e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1043G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1554G>A
  hgvsp: ENST00000368823.1:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1566G>A
  hgvsp: ENST00000458431.2:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1566G>A
  hgvsp: ENST00000368822.1:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1566G>A
  hgvsp: ENST00000368827.6:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1043G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.894G>A
  hgvsp: ENST00000440583.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1566G>A
  hgvsp: ENST00000368824.3:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1431G>A
  hgvsp: ENST00000368825.3:c.1431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr522Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-151747254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747254
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.893C>T
  hgvsp: ENSP00000416645.2:p.Thr298Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1553C>T
  hgvsp: ENSP00000357813.1:p.Thr518Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1565C>T
  hgvsp: ENSP00000357819.6:p.Thr522Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1042C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1565C>T
  hgvsp: ENSP00000395718.2:p.Thr522Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1565C>T
  hgvsp: ENSP00000357815.3:p.Thr522Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1430C>T
  hgvsp: ENSP00000357817.3:p.Thr477Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1565C>T
  hgvsp: ENSP00000357812.1:p.Thr522Met
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1042C>T
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr522Met
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-151747256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747256
    reference: chr 1
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1040C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1563C>T
  hgvsp: ENST00000368827.6:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1563C>T
  hgvsp: ENST00000368822.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1563C>T
  hgvsp: ENST00000458431.2:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1428C>T
  hgvsp: ENST00000368825.3:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.891C>T
  hgvsp: ENST00000440583.2:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1040C>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1563C>T
  hgvsp: ENST00000368824.3:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1551C>T
  hgvsp: ENST00000368823.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser521Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-151747258-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747256
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1559_1560delTC
  hgvsp: ENSP00000395718.2:p.Leu520GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1559_1560delTC
  hgvsp: ENSP00000357819.6:p.Leu520GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1036_*1037delTC
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1036_*1037delTC
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1424_1425delTC
  hgvsp: ENSP00000357817.3:p.Leu475GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1547_1548delTC
  hgvsp: ENSP00000357813.1:p.Leu516GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1559_1560delTC
  hgvsp: ENSP00000357815.3:p.Leu520GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1559_1560delTC
  hgvsp: ENSP00000357812.1:p.Leu520GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.887_888delTC
  hgvsp: ENSP00000416645.2:p.Leu296GlnfsTer6
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu520GlnfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: TGA
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-151747263-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747263
    reference: chr 1
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1544C>G
  hgvsp: ENSP00000357813.1:p.Ser515Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1556C>G
  hgvsp: ENSP00000357815.3:p.Ser519Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1556C>G
  hgvsp: ENSP00000357812.1:p.Ser519Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1421C>G
  hgvsp: ENSP00000357817.3:p.Ser474Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1556C>G
  hgvsp: ENSP00000395718.2:p.Ser519Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1556C>G
  hgvsp: ENSP00000357819.6:p.Ser519Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.884C>G
  hgvsp: ENSP00000416645.2:p.Ser295Cys
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1033C>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1033C>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser519Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-151747267-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747267
    reference: chr 1
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1552G>T
  hgvsp: ENSP00000395718.2:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1540G>T
  hgvsp: ENSP00000357813.1:p.Ala514Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1552G>T
  hgvsp: ENSP00000357819.6:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1552G>T
  hgvsp: ENSP00000357815.3:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1552G>T
  hgvsp: ENSP00000357812.1:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.880G>T
  hgvsp: ENSP00000416645.2:p.Ala294Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1029G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1417G>T
  hgvsp: ENSP00000357817.3:p.Ala473Ser
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1029G>T
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala518Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-151747292-TGAAAACAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747284
    reference: chr 1
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: TGAAAACAG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-151747298-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747298
    reference: chr 1
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1014-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1537-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1537-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1537-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1525-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1014-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1537-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.865-16G>T
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1402-16G>T
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-151747315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747315
    reference: chr 1
allele count: 2
allele frequency: 1.658787426391308e-5
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1537-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1014-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1525-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1402-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1014-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1537-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1537-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.865-33G>A
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1537-33G>A
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-151747317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747317
    reference: chr 1
allele count: 4
allele frequency: 3.318125259228536e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357812
  ensembl transcript: ENST00000368822
  gene symbol: TDRKH
  hgvsc: ENST00000368822.1:c.1537-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000416645
  ensembl transcript: ENST00000440583
  gene symbol: TDRKH
  hgvsc: ENST00000440583.2:c.865-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357817
  ensembl transcript: ENST00000368825
  gene symbol: TDRKH
  hgvsc: ENST00000368825.3:c.1402-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000437147
  ensembl transcript: ENST00000525790
  gene symbol: TDRKH
  hgvsc: ENST00000525790.1:c.*1014-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000433678
  ensembl transcript: ENST00000526413
  gene symbol: TDRKH
  hgvsc: ENST00000526413.1:c.*1014-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357819
  ensembl transcript: ENST00000368827
  gene symbol: TDRKH
  hgvsc: ENST00000368827.6:c.1537-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357815
  ensembl transcript: ENST00000368824
  gene symbol: TDRKH
  hgvsc: ENST00000368824.3:c.1537-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000357813
  ensembl transcript: ENST00000368823
  gene symbol: TDRKH
  hgvsc: ENST00000368823.1:c.1525-35A>G
  variant of: http://identifiers.org/hgnc/11713
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182134
  ensembl protein: ENSP00000395718
  ensembl transcript: ENST00000458431
  gene symbol: TDRKH
  hgvsc: ENST00000458431.2:c.1537-35A>G
  variant of: http://identifiers.org/hgnc/11713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-151747319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151747319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151747319
    reference: chr 1
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 17285
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4428
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

FS
type: SiteQuality
SIO_000300: 1.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.412e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.327137e6

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 2.32788e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 8.548e0

QD
type: SiteQuality
SIO_000300: 1.46e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -3.881e-1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18789
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.005e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.613e0

DP
type: SiteQuality
SIO_000300: 2.328048e6

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18791
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6050
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 1.728e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

DP
type: SiteQuality
SIO_000300: 2.328588e6

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 2.328745e6

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 5.726e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18788
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.593e0

FS
type: SiteQuality
SIO_000300: 1.223e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 2.329233e6

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18784
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6058
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

DP
type: SiteQuality
SIO_000300: 2.32919e6

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

FS
type: SiteQuality
SIO_000300: 2.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 2.328834e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.327738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

FS
type: SiteQuality
SIO_000300: 7.14e0

VQSLOD
type: SiteQuality
SIO_000300: -3.077e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.717e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 4421
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variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 3.213e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.596e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.327037e6

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
all individuals: 18777
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.175126590095097e-5
allele num: 16194
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.411e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 8.57e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 2.324721e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.286173633440514e-4
allele num: 15550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 2.310507e6

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.478e0

GenotypeQuality
all individuals: 14395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5822
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.853070175438596e-5
allele num: 14592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 1.206e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 2.28956e6

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2514
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variant carriers: 0

GenotypeQuality
all individuals: 18774
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.681e0

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 2.286118e6

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.555670290955476e-5
allele num: 65852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.084491384102279e-4
allele num: 14392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 3.681e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.286118e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 18767
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 81
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13896
bin: 6.25e1
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GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.035317292809905e-5
allele num: 14214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.281018e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.077e1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

QD
type: SiteQuality
SIO_000300: 3.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

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

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 8.25e1
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 58
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 18766
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variant carriers: 1

GenotypeQuality
all individuals: 3702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13370
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 5.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.584e-1

DP
type: SiteQuality
SIO_000300: 2.270291e6

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.885e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.299826689774697e-3
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37501145842882e-4
allele num: 65454
num of homozygotes: 0

African
type: Population
allele count: 215
allele frequency: 2.211934156378601e-2
allele num: 9720
num of homozygotes: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.514004542013626e-4
allele num: 13210
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.266139e6

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.471e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
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: 11536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
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allele count: 15
allele frequency: 1.156336725254394e-3
allele num: 12972
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 2.252074e6

VQSLOD
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SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-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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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.486e0

DP
type: SiteQuality
SIO_000300: 2.248413e6

MQ
type: SiteQuality
SIO_000300: 5.523e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.856e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-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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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.74e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 6.15e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.268e0

DP
type: SiteQuality
SIO_000300: 2.245482e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12543
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.579272477693891e-5
allele num: 11656
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 2.234995e6

FS
type: SiteQuality
SIO_000300: 2.902e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.59e-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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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.246882793017456e-3
allele num: 802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.191835e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.389486260454002e-4
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554533018281308e-5
allele num: 64328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.720053e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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South Asian
type: Population
allele count: 1
allele frequency: 6.282196255811031e-5
allele num: 15918
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.732901e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1736
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GenotypeQuality
all individuals: 1924
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variant carriers: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64606
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.271951831409934e-5
allele num: 15944
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.277e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.571e-1

QD
type: SiteQuality
SIO_000300: 7.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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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: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 9.25e1
variant carriers: 0

Other
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: 11460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64920
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.194e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 1.175e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.812693e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 8.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 1.842252e6

GenotypeQuality
all individuals: 3182
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.842252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 763
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variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.848792e6

QD
type: SiteQuality
SIO_000300: 2.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1947
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variant carriers: 0

GenotypeQuality
all individuals: 9392
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.869165e6

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 1.872295e6

VQSLOD
type: SiteQuality
SIO_000300: -5.149e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

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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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.876464e6

MQ
type: SiteQuality
SIO_000300: 5.84e1

VQSLOD
type: SiteQuality
SIO_000300: -9.079e-1

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3439
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

DP
type: SiteQuality
SIO_000300: 1.876543e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 7634
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 99
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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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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9394
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: -9.549e-1

FS
type: SiteQuality
SIO_000300: 5.143e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 1.878933e6

QD
type: SiteQuality
SIO_000300: 1.013e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 2.428e0

QD
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

DP
type: SiteQuality
SIO_000300: 1.879464e6

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 30

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: 9744
num of homozygotes: 0

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

Latino
type: Population
allele count: 30
allele frequency: 2.603714632876237e-3
allele num: 11522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.880412e6

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.134e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

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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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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.879178e6

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

DP
type: SiteQuality
SIO_000300: 1.876087e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.112952398200972e-4
allele num: 66258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.876775e6

FS
type: SiteQuality
SIO_000300: 1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.873572e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.546941979110065e-5
allele num: 66252
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East Asian
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Other
type: Population
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Latino
type: Population
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FS
type: SiteQuality
SIO_000300: 1.778e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.584e1

DP
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SIO_000300: 1.870329e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
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SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
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SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.101e1

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
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.711e1

InbreedingCoeff
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

FS
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

FS
type: SiteQuality
SIO_000300: 7.91e0

BaseQRankSum
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SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.861794e6

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

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

South Asian
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allele count: 5
allele frequency: 3.048780487804878e-4
allele num: 16400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.459e0

FS
type: SiteQuality
SIO_000300: 1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.281e1

DP
type: SiteQuality
SIO_000300: 1.85922e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.266e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019597185735423e-5
allele num: 66234
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.102770657878677e-5
allele num: 16386
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.854925e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.006e0

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.188e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023980162690133e-5
allele num: 66138
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.25e0

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

African
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allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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African
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East Asian
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BaseQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
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African
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allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: -6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 1.529e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.378e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.053e0

ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.0e-4

DP
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SIO_000300: 3.202262e6

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.637143519591931e-4
allele num: 8626
num of homozygotes: 0

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

DP
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SIO_000300: 3.20244e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: -2.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
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SIO_000300: -4.14e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.096e0

ClippingRankSum
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SIO_000300: -3.085e0

QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 2.993e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 3.20216e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 7.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
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ClippingRankSum
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SIO_000300: 1.31e0

MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.202155e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

Other
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allele num: 900
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 9.274287039183863e-4
allele num: 8626
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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allele num: 16512
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African
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European (Finnish)
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Latino
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Other
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FS
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 14
allele frequency: 2.097881140048551e-4
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.006e1

BaseQRankSum
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SIO_000300: 6.44e-1

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

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele num: 9800
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East Asian
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allele count: 0
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num of homozygotes: 0

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

Other
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MQRankSum
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SIO_000300: -1.14e-1

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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 4.051e0

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

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

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

Other
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South Asian
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East Asian
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allele num: 8624
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African
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.963e0

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

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

South Asian
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allele num: 16510
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African
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European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

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

African
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European (Non-Finnish)
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Latino
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Other
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East Asian
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South Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.461e0

FS
type: SiteQuality
SIO_000300: 7.472e0

DP
type: SiteQuality
SIO_000300: 3.198005e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.905e0

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

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6156
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36493
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.629e0

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.187425e6

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36493
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3193
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.50385423966363e-4
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.006e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 3.181353e6

FS
type: SiteQuality
SIO_000300: 2.383e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3