11-126138742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138742
    reference: chr 11
allele count: 1
allele frequency: 9.510766187324051e-6
allele num: 105144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000435508
  ensembl transcript: ENST00000532259
  gene symbol: SRPR
  hgvsc: ENST00000532259.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000528744
  gene symbol: SRPR
  hgvsc: ENST00000528744.1:n.74C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.180C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000328023
  ensembl transcript: ENST00000332118
  gene symbol: SRPR
  hgvsc: ENST00000332118.6:c.-43C>T
  variant of: http://identifiers.org/hgnc/11307
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

11-126138748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138748
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138748
    reference: chr 11
allele count: 45
allele frequency: 4.492273289941301e-4
allele num: 100172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000435508
  ensembl transcript: ENST00000532259
  gene symbol: SRPR
  hgvsc: ENST00000532259.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.174C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000528744
  gene symbol: SRPR
  hgvsc: ENST00000528744.1:n.68C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000328023
  ensembl transcript: ENST00000332118
  gene symbol: SRPR
  hgvsc: ENST00000332118.6:c.-49C>T
  variant of: http://identifiers.org/hgnc/11307
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

11-126138748-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138748
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138748
    reference: chr 11
allele count: 3
allele frequency: 2.994848859960867e-5
allele num: 100172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000328023
  ensembl transcript: ENST00000332118
  gene symbol: SRPR
  hgvsc: ENST00000332118.6:c.-49C>G
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000182934
  ensembl protein: ENSP00000435508
  ensembl transcript: ENST00000532259
  gene symbol: SRPR
  hgvsc: ENST00000532259.1:c.-49C>G
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.174C>G
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000528744
  gene symbol: SRPR
  hgvsc: ENST00000528744.1:n.68C>G
  variant of: http://identifiers.org/hgnc/11307
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/11-126138885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138885
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 2178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.155G>T
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34635
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 108
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 40
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-126138927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138927
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138927
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 2548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.113C>T
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1124
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 314
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-126138939-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138939
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138939
    reference: chr 11
allele count: 5
allele frequency: 1.43184421534937e-3
allele num: 3492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.101C>G
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35193
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  variant carriers: 6
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1276
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genotype quality: GenotypeQuality
  all individuals: 3544
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 1218
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 213
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 114
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1088
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

11-126138944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138944
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138944
    reference: chr 11
allele count: 1
allele frequency: 2.252252252252252e-4
allele num: 4440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.96C>T
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 410
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 32449
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8749
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 4.363001745200698e-4
  allele num: 2292
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1354
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

11-126138945-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138945
    reference: chr 11
allele count: 7
allele frequency: 1.506672406371072e-3
allele num: 4646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.95C>A
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 524
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 461
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 11
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num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 140
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 54
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-126138951-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138951
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138951
    reference: chr 11
allele count: 2
allele frequency: 3.552397868561279e-4
allele num: 5630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.2C>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.89G>T
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 902
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32583
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 462
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-126138978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138978
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138978
    reference: chr 11
allele count: 1
allele frequency: 6.218132073125233e-5
allele num: 16082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.29G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.62C>T
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 680
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1132
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-126138983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138983
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 18160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.57G>C
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.34C>G
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 310
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-126138991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138991
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138991
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 23744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.42C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.49G>A
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 966
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-126138993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138993
    reference: chr 11
allele count: 9
allele frequency: 3.484050789718179e-4
allele num: 25832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.47G>A
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.44C>T
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31886
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 618
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-126138999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126138999
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126138999
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 31306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.41T>C
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.50A>G
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32863
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1346
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-126139000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139000
    reference: chr 11
allele count: 2
allele frequency: 6.232471174820816e-5
allele num: 32090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.40T>C
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.51A>G
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32974
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1372
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-126139005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139005
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139005
    reference: chr 11
allele count: 1
allele frequency: 2.868946522836814e-5
allele num: 34856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.35G>A
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.56C>T
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 5.509034817100044e-5
  allele num: 18152
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-126139007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139007
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139007
    reference: chr 11
allele count: 1
allele frequency: 2.647884340412011e-5
allele num: 37766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.58C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.33G>A
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1680
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-126139008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139008
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139008
    reference: chr 11
allele count: 1
allele frequency: 2.542588354945334e-5
allele num: 39330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.32C>T
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.59G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 324
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-126139008-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139008
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139008
    reference: chr 11
allele count: 1
allele frequency: 2.542588354945334e-5
allele num: 39330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.32C>A
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.59G>T
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1352
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-126139009-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139009
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139009
    reference: chr 11
allele count: 91
allele frequency: 2.226681021826368e-3
allele num: 40868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.60C>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.31G>C
  variant of: http://identifiers.org/hgnc/11307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31954
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10818
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 340
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 5.285412262156448e-4
  allele num: 1892
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

11-126139015-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139015
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139015
    reference: chr 11
allele count: 1
allele frequency: 2.089252883168979e-5
allele num: 47864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.25A>C
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.66T>G
  variant of: http://identifiers.org/hgnc/26927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1875
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genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 26624
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

11-126139028-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139028
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139028
    reference: chr 11
allele count: 1
allele frequency: 1.638699528054536e-5
allele num: 61024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.12C>A
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-74G>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.79G>T
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-126139031-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139030
    reference: chr 11
allele count: 6
allele frequency: 9.137705217629679e-5
allele num: 65662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-69delG
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.84delG
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182934
  ensembl transcript: ENST00000530680
  gene symbol: SRPR
  hgvsc: ENST00000530680.1:n.8delC
  variant of: http://identifiers.org/hgnc/11307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.4delG
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-126139044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139044
    reference: chr 11
allele count: 2
allele frequency: 2.298480704254488e-5
allele num: 87014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.15G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.95G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-58G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-126139044-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139044
    reference: chr 11
allele count: 1
allele frequency: 1.149240352127244e-5
allele num: 87014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-58G>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.95G>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.15G>T
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-126139047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139047
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139047
    reference: chr 11
allele count: 6
allele frequency: 6.526563111865292e-5
allele num: 91932
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-55G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.18G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.98G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31571
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-126139047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139047
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139047
    reference: chr 11
allele count: 1
allele frequency: 1.087760518644215e-5
allele num: 91932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.98G>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-55G>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.18G>C
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-126139049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139049
    reference: chr 11
allele count: 2
allele frequency: 2.105351804286496e-5
allele num: 94996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-53G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.20G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.100G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32605
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

11-126139052-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139052
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139052
    reference: chr 11
allele count: 3
allele frequency: 3.009570433980057e-5
allele num: 99682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-50A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.103A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.23A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.1A>G
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

11-126139054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139054
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139054
    reference: chr 11
allele count: 2
allele frequency: 1.965717880169838e-5
allele num: 101744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-48T>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.3T>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.25T>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.105T>C
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-126139062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139062
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139062
    reference: chr 11
allele count: 2
allele frequency: 1.827819411442149e-5
allele num: 109420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-40C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.33C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.11C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.113C>T
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-126139064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139064
    reference: chr 11
allele count: 4
allele frequency: 3.600489666594657e-5
allele num: 111096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.115G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.35G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.13G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-38G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6007
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-126139066-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139066
    reference: chr 11
allele count: 6
allele frequency: 5.32235744952631e-5
allele num: 112732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000434739
  ensembl transcript: ENST00000525770
  gene symbol: FOXRED1
  hgvsc: ENST00000525770.1:c.-36A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-36A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000404371
  ensembl transcript: ENST00000442061
  gene symbol: FOXRED1
  hgvsc: ENST00000442061.2:c.-325A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000525083
  gene symbol: FOXRED1
  hgvsc: ENST00000525083.1:n.1A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000526525
  gene symbol: FOXRED1
  hgvsc: ENST00000526525.1:n.1A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.37A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.15A>C
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.117A>C
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9650
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6232
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-126139067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139067
    reference: chr 11
allele count: 1
allele frequency: 8.8265927586633e-6
allele num: 113294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000404371
  ensembl transcript: ENST00000442061
  gene symbol: FOXRED1
  hgvsc: ENST00000442061.2:c.-324G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000434739
  ensembl transcript: ENST00000525770
  gene symbol: FOXRED1
  hgvsc: ENST00000525770.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000526525
  gene symbol: FOXRED1
  hgvsc: ENST00000526525.1:n.2G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000525083
  gene symbol: FOXRED1
  hgvsc: ENST00000525083.1:n.2G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-35G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.118G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.16G>A
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.38G>A
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

11-126139070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139070
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139070
    reference: chr 11
allele count: 1
allele frequency: 8.736523911865946e-6
allele num: 114462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000434739
  ensembl transcript: ENST00000525770
  gene symbol: FOXRED1
  hgvsc: ENST00000525770.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.41C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.19C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000404371
  ensembl transcript: ENST00000442061
  gene symbol: FOXRED1
  hgvsc: ENST00000442061.2:c.-321C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000526525
  gene symbol: FOXRED1
  hgvsc: ENST00000526525.1:n.5C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.121C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-32C>T
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000525083
  gene symbol: FOXRED1
  hgvsc: ENST00000525083.1:n.5C>T
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

11-126139071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 126139071
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 126139071
    reference: chr 11
allele count: 42
allele frequency: 3.653190452995616e-4
allele num: 114968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000263578
  ensembl transcript: ENST00000263578
  gene symbol: FOXRED1
  hgvsc: ENST00000263578.5:c.-31A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000529802
  gene symbol: FOXRED1
  hgvsc: ENST00000529802.1:n.20A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000525083
  gene symbol: FOXRED1
  hgvsc: ENST00000525083.1:n.6A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000526525
  gene symbol: FOXRED1
  hgvsc: ENST00000526525.1:n.6A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000434739
  ensembl transcript: ENST00000525770
  gene symbol: FOXRED1
  hgvsc: ENST00000525770.1:c.-31A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110074
  ensembl protein: ENSP00000404371
  ensembl transcript: ENST00000442061
  gene symbol: FOXRED1
  hgvsc: ENST00000442061.2:c.-320A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000533839
  gene symbol: FOXRED1
  hgvsc: ENST00000533839.1:n.122A>G
  variant of: http://identifiers.org/hgnc/26927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110074
  ensembl transcript: ENST00000534011
  gene symbol: FOXRED1
  hgvsc: ENST00000534011.1:n.42A>G
  variant of: http://identifiers.org/hgnc/26927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40968
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-111085482-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085480
    reference: chr 12
allele count: 1
allele frequency: 8.466396870819716e-6
allele num: 118114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-69_*897-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-69_*77-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-69_601-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-69_728-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-69_1579-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-69_*1254-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-69_*1447-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-69_*1313-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-69_*1379-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.388_389delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2489_756+2490delTT
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-69_1636-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-69_3982-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-69_-13-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-69_*77-68delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+344_548+345delAA
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-69_1621-68delAA
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: GAA
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-111085488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085488
    reference: chr 12
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.391T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2485A>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-66T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+347T>G
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

12-111085493-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085490
    reference: chr 12
allele count: 30
allele frequency: 2.511637252603731e-4
allele num: 119444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+353_548+355delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-60_3982-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-60_1621-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-60_728-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-60_*1447-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-60_*897-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-60_*77-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-60_1636-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-60_*1313-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-60_1579-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-60_-13-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.397_399delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-60_*1379-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2477_756+2479delAAT
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-60_*1254-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-60_601-58delATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-60_*77-58delATT
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37255
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CATT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

12-111085494-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085491
    reference: chr 12
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-55_601-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-55_-13-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+358_548+360delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2476_756+2478delCAA
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-55_*1379-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-55_*77-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-55_1621-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-55_*897-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-55_728-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-55_1636-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-55_3982-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.402_404delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-55_*77-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-55_1579-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-55_*1313-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-55_*1254-53delTGT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-55_*1447-53delTGT
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: ATTG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-111085497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085497
    reference: chr 12
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+356G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.400G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-57G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2476C>T
  variant of: http://identifiers.org/hgnc/28240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-111085511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085511
    reference: chr 12
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2462T>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.414A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-43A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+370A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-43A>G
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-111085529-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085529
    reference: chr 12
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+388C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.432C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2444G>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-25C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-25C>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-111085533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085533
    reference: chr 12
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2440C>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+392G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.436G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-21G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-21G>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-111085534-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085534
    reference: chr 12
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2439G>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.437C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-20C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+393C>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-111085535-ATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085535
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085533
    reference: chr 12
allele count: 885
allele frequency: 7.336970038633085e-3
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.444_445delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-13_1621-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-13_3982-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-13_*1254-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-13_*77-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-13_*77-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+400_548+401delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-13_728-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-13_*1313-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-13_1579-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-13_1636-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-13_*1379-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-13_-13-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2436_756+2437delGA
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-13_601-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-13_*897-12delCT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-13_*1447-12delCT
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36922
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
num of homozygotes: 5
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: ATC
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-111085536-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085536
    reference: chr 12
allele count: 21
allele frequency: 1.766635820644402e-4
allele num: 118870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+395T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.439T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2437A>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-18T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-18T>G
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-111085538-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085538
    reference: chr 12
allele count: 1
allele frequency: 8.410994852471151e-6
allele num: 118892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.441T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2435A>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+397T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-16T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-16T>G
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-111085541-CTGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085537
    reference: chr 12
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-11_*77-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-11_601-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-11_*1447-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.446_449delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+402_548+405delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-11_*77-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-11_*1313-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-11_1621-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-11_*897-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2428_756+2431delAACA
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-11_1579-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-11_-13-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-11_*1379-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-11_*1254-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-11_1636-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-11_3982-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-11_728-8delGTTT
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CTGTT
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-111085542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085542
    reference: chr 12
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.445T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+401T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2431A>G
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-12T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-12T>C
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-111085547-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085547
    reference: chr 12
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1636-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1254-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1379-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1313-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1579-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2426T>G
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*77-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*897-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3982-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.450A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.728-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.601-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1621-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+406A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1447-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*77-7A>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-13-7A>C
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1636-7A>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-111085559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085559
    reference: chr 12
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2414G>A
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1641C>T
  hgvsp: ENST00000397659.4:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.733C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1626C>T
  hgvsp: ENST00000551590.1:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*82C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3987C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1384C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*82C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1452C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1318C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1584C>T
  hgvsp: ENST00000397655.3:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.606C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+418C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.462C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*902C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1259C>T
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn547Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-111085560-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085560
    reference: chr 12
allele count: 2
allele frequency: 1.656753756689143e-5
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.607T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1260T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2413A>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.463T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1642T>G
  hgvsp: ENSP00000380779.4:p.Ser548Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*903T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*83T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1319T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448188
  ensembl transcript: ENST00000547461
  gene symbol: TCTN1
  hgvsc: ENST00000547461.2:c.*83T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1585T>G
  hgvsp: ENSP00000380775.3:p.Ser529Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1385T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1627T>G
  hgvsp: ENSP00000448735.1:p.Ser543Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.734T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1453T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3988T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+419T>G
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser548Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-111085564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085564
    reference: chr 12
allele count: 2
allele frequency: 1.656671415791392e-5
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+423G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1323G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.467G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*87G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1457G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1589G>A
  hgvsp: ENSP00000380775.3:p.Gly530Glu
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3992G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1631G>A
  hgvsp: ENSP00000448735.1:p.Gly544Glu
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*907G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.611G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1646G>A
  hgvsp: ENSP00000380779.4:p.Gly549Glu
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1389G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.738G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1264G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2409C>T
  variant of: http://identifiers.org/hgnc/28240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly549Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-111085569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085569
    reference: chr 12
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1269G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*92G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.743G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1594G>A
  hgvsp: ENSP00000380775.3:p.Glu532Lys
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.472G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.3G>A
  hgvsp: ENSP00000450154.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1462G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1651G>A
  hgvsp: ENSP00000380779.4:p.Glu551Lys
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2404C>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.616G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+428G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.3997G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1394G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1328G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1636G>A
  hgvsp: ENSP00000448735.1:p.Glu546Lys
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*912G>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

12-111085576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085576
    reference: chr 12
allele count: 15
allele frequency: 1.242441812308457e-4
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*919C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1643C>T
  hgvsp: ENSP00000448735.1:p.Thr548Met
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1276C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1469C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.10C>T
  hgvsp: ENSP00000450154.1:p.Arg4Ter
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*99C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.623C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.750C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.479C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4004C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1658C>T
  hgvsp: ENSP00000380779.4:p.Thr553Met
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1401C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+435C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2397G>A
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1601C>T
  hgvsp: ENSP00000380775.3:p.Thr534Met
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg4Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-111085577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085577
    reference: chr 12
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1402G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.624G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+436G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1644G>A
  hgvsp: ENST00000551590.1:c.1644G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.751G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4005G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1602G>A
  hgvsp: ENST00000397655.3:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1336G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.11G>A
  hgvsp: ENSP00000450154.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1277G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*920G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1659G>A
  hgvsp: ENST00000397659.4:c.1659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1470G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*100G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2396C>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.480G>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg4Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-111085579-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085579
    reference: chr 12
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*922T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.13T>G
  hgvsp: ENSP00000450154.1:p.Phe5Val
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1404T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*102T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1604T>G
  hgvsp: ENSP00000380775.3:p.Ile535Ser
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.626T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.482T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1661T>G
  hgvsp: ENSP00000380779.4:p.Ile554Ser
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.753T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1472T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1279T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4007T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2394A>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1338T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+438T>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1646T>G
  hgvsp: ENSP00000448735.1:p.Ile549Ser
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile554Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-111085581-C-CTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085584
    reference: chr 12
allele count: 10
allele frequency: 8.282808203293245e-5
allele num: 120732
alternate allele: CTTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+443_548+445dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.758_760dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*927_*929dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1409_*1411dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1477_*1479dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1343_*1345dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2389_756+2391dupTAA
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1609_1611dupATT
  hgvsp: ENSP00000380775.3:p.Ile537dup
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1284_*1286dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4012_4014dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.18_20dupATT
  hgvsp: ENSP00000450154.1:p.Leu6dup
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1666_1668dupATT
  hgvsp: ENSP00000380779.4:p.Ile556dup
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1651_1653dupATT
  hgvsp: ENSP00000448735.1:p.Ile551dup
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.631_633dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.487_489dupATT
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*107_*109dupATT
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile556dup
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

12-111085581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085581
    reference: chr 12
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1474C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1340C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.484C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1406C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*104C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1663C>T
  hgvsp: ENSP00000380779.4:p.Leu555Phe
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.15C>T
  hgvsp: ENST00000549123.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1606C>T
  hgvsp: ENSP00000380775.3:p.Leu536Phe
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4009C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.628C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1648C>T
  hgvsp: ENSP00000448735.1:p.Leu550Phe
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*924C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1281C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+440C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2392G>A
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.755C>T
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu555Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-111085589-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085589
    reference: chr 12
allele count: 38
allele frequency: 3.147571400172288e-4
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1671C>A
  hgvsp: ENST00000397659.4:c.1671C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1414C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.23C>A
  hgvsp: ENSP00000450154.1:p.Pro8Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*112C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.636C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1482C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.763C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1348C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4017C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1614C>A
  hgvsp: ENST00000397655.3:c.1614C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.492C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*932C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2384G>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1656C>A
  hgvsp: ENST00000551590.1:c.1656C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+448C>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1289C>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36793
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro8Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-111085589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085589
    reference: chr 12
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*112C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4017C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1482C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.492C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1614C>T
  hgvsp: ENST00000397655.3:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1348C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+448C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.23C>T
  hgvsp: ENSP00000450154.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.763C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*932C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1671C>T
  hgvsp: ENST00000397659.4:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.636C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1289C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1414C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1656C>T
  hgvsp: ENST00000551590.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2384G>A
  variant of: http://identifiers.org/hgnc/28240
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro8Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-111085590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085590
    reference: chr 12
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1483A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2383T>C
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1349A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.637A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+449A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1657A>G
  hgvsp: ENSP00000448735.1:p.Thr553Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4018A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*113A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1290A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1415A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.764A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1615A>G
  hgvsp: ENSP00000380775.3:p.Thr539Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1672A>G
  hgvsp: ENSP00000380779.4:p.Thr558Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*933A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.493A>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.24A>G
  hgvsp: ENST00000549123.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr558Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-111085594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085594
    reference: chr 12
allele count: 15
allele frequency: 1.242668257282036e-4
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1294C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1487C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*117C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1353C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*937C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.768C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2379G>A
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4022C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.497C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1661C>T
  hgvsp: ENSP00000448735.1:p.Ala554Val
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1419C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+453C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.28C>T
  hgvsp: ENSP00000450154.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.641C>T
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1619C>T
  hgvsp: ENSP00000380775.3:p.Ala540Val
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1676C>T
  hgvsp: ENSP00000380779.4:p.Ala559Val
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala559Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-111085595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085595
    reference: chr 12
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1677G>A
  hgvsp: ENST00000397659.4:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.498G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1420G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.29G>A
  hgvsp: ENSP00000450154.1:p.Arg10Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.769G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1620G>A
  hgvsp: ENST00000397655.3:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1662G>A
  hgvsp: ENST00000551590.1:c.1662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1295G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*118G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*938G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2378C>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4023G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+454G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.642G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1354G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1488G>A
  variant of: http://identifiers.org/hgnc/26113
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Gln
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: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

12-111085597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085597
    reference: chr 12
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*940T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1664T>C
  hgvsp: ENSP00000448735.1:p.Val555Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1490T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.644T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2376A>G
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1297T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1679T>C
  hgvsp: ENSP00000380779.4:p.Val560Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.31T>C
  hgvsp: ENST00000549123.1:c.31T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1356T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.500T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*120T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+456T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.771T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4025T>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1622T>C
  hgvsp: ENSP00000380775.3:p.Val541Ala
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1422T>C
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val560Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-111085600-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085600
    reference: chr 12
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1682C>G
  hgvsp: ENSP00000380779.4:p.Thr561Ser
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.34C>G
  hgvsp: ENSP00000450154.1:p.Leu12Val
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1300C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1493C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4028C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.503C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1625C>G
  hgvsp: ENSP00000380775.3:p.Thr542Ser
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.647C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*123C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1359C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1667C>G
  hgvsp: ENSP00000448735.1:p.Thr556Ser
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*943C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1425C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.774C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+459C>G
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2373G>C
  variant of: http://identifiers.org/hgnc/28240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr561Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-111085611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085611
    reference: chr 12
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1693G>A
  hgvsp: ENSP00000380779.4:p.Val565Met
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*954G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.785G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2362C>T
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1370G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*134G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000485445
  gene symbol: TCTN1
  hgvsc: ENST00000485445.1:n.658G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1636G>A
  hgvsp: ENSP00000380775.3:p.Val546Met
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+470G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.45G>A
  hgvsp: ENSP00000450154.1:p.Met15Ile
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1678G>A
  hgvsp: ENSP00000448735.1:p.Val560Met
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1504G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.514G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4039G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1436G>A
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1311G>A
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val565Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-111085626-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111085626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111085626
    reference: chr 12
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000448735
  ensembl transcript: ENST00000551590
  gene symbol: TCTN1
  hgvsc: ENST00000551590.1:c.1693G>C
  hgvsp: ENSP00000448735.1:p.Glu565Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000435027
  ensembl transcript: ENST00000464809
  gene symbol: TCTN1
  hgvsc: ENST00000464809.1:c.*1519G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000366882
  ensembl transcript: ENST00000377654
  gene symbol: TCTN1
  hgvsc: ENST00000377654.3:c.*149G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000552038
  gene symbol: TCTN1
  hgvsc: ENST00000552038.1:n.800G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122986
  ensembl protein: ENSP00000449601
  ensembl transcript: ENST00000548312
  gene symbol: HVCN1
  hgvsc: ENST00000548312.1:c.756+2347C>G
  variant of: http://identifiers.org/hgnc/28240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380775
  ensembl transcript: ENST00000397655
  gene symbol: TCTN1
  hgvsc: ENST00000397655.3:c.1651G>C
  hgvsp: ENSP00000380775.3:p.Glu551Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380776
  ensembl transcript: ENST00000397656
  gene symbol: TCTN1
  hgvsc: ENST00000397656.4:c.*1326G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000450154
  ensembl transcript: ENST00000549123
  gene symbol: TCTN1
  hgvsc: ENST00000549123.1:c.60G>C
  hgvsp: ENSP00000450154.1:p.Gln20His
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000491068
  gene symbol: TCTN1
  hgvsc: ENST00000491068.1:n.548+485G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436044
  ensembl transcript: ENST00000490514
  gene symbol: TCTN1
  hgvsc: ENST00000490514.1:c.*1385G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000380779
  ensembl transcript: ENST00000397659
  gene symbol: TCTN1
  hgvsc: ENST00000397659.4:c.1708G>C
  hgvsp: ENSP00000380779.4:p.Glu570Gln
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000460357
  gene symbol: TCTN1
  hgvsc: ENST00000460357.1:n.4054G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204852
  ensembl transcript: ENST00000481093
  gene symbol: TCTN1
  hgvsc: ENST00000481093.1:n.529G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000436673
  ensembl transcript: ENST00000495659
  gene symbol: TCTN1
  hgvsc: ENST00000495659.2:c.*1451G>C
  variant of: http://identifiers.org/hgnc/26113
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204852
  ensembl protein: ENSP00000437196
  ensembl transcript: ENST00000480648
  gene symbol: TCTN1
  hgvsc: ENST00000480648.1:c.*969G>C
  variant of: http://identifiers.org/hgnc/26113
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu570Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

GenotypeQuality
all individuals: 3012
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.765661416766721e-5
allele num: 56636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.19865e6

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
all individuals: 6903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 6
allele frequency: 5.736137667304016e-4
allele num: 10460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.433350488934638e-5
allele num: 15544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 6.866857206488253e-4
allele num: 53882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.099076406381192e-4
allele num: 4764
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.153864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.218e0

FS
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.930005146680391e-4
allele num: 15544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.153864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.175e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.808e0

DP
type: SiteQuality
SIO_000300: 1.39245e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.420000000000001e-2

QD
type: SiteQuality
SIO_000300: 8.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.45534e5

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

QD
type: SiteQuality
SIO_000300: 1.327e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.690000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

African
type: Population
allele count: 5
allele frequency: 1.396648044692737e-2
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.71101e5

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.624e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.90204e5

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 2.909393183707398e-3
allele num: 2406
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 1.93201e5

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.177e-1

FS
type: SiteQuality
SIO_000300: 2.194e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.139e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.114827201783724e-3
allele num: 1794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.683e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.630000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 2.15984e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.402524544179523e-4
allele num: 7130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.208e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 3.93935e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.29233e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 7.53e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

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

South 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: 1732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

DP
type: SiteQuality
SIO_000300: 5.01893e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 4.18e0

Latino
type: Population
allele count: 9
allele frequency: 8.442776735459663e-3
allele num: 1066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 5.23873e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.512e1

MQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 5.79413e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 8.333333333333334e-4
allele num: 2400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

DP
type: SiteQuality
SIO_000300: 5.86572e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.173e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 3.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.522e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 6.17566e5

European (Finnish)
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allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 3.481894150417827e-4
allele num: 2872
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 frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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DP
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.96e-2

BaseQRankSum
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SIO_000300: -2.262e0

ReadPosRankSum
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QD
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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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: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21202
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 5.605381165919282e-4
allele num: 1784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 5.605381165919282e-4
allele num: 1784
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

DP
type: SiteQuality
SIO_000300: 6.51486e5

FS
type: SiteQuality
SIO_000300: 3.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

East Asian
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Other
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African
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allele frequency: 2.796983029541169e-2
allele num: 3182
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1436
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European (Non-Finnish)
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allele frequency: 4.528165187466039e-5
allele num: 22084
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.62224e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2358
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Other
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allele frequency: 0.0e0
allele num: 398
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South Asian
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allele frequency: 0.0e0
allele num: 10654
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African
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allele frequency: 2.688172043010753e-4
allele num: 3720
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
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SIO_000300: 7.24524e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.342e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3298
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.888837531777213e-5
allele num: 34616
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2360
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.36199e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5172
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12308
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3694
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European (Non-Finnish)
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allele count: 6
allele frequency: 1.605737836535888e-4
allele num: 37366
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2552
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.194e0

DP
type: SiteQuality
SIO_000300: 8.76268e5

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.997e1

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 14278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48762
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East Asian
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allele frequency: 3.543586109142452e-4
allele num: 5644
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7038
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 1.420858198351804e-4
allele num: 7038
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: 0.0e0
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East Asian
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allele num: 5644
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 640
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 5.5e-3

QD
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 1

East Asian
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allele frequency: 9.759271307742355e-4
allele num: 6148
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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Other
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African
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allele frequency: 2.595380223202699e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.108156028368794e-4
allele num: 9024
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European (Finnish)
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South Asian
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East Asian
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African
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allele frequency: 2.467308166790032e-4
allele num: 8106
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Other
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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

ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 3.542079909322754e-5
allele num: 56464
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Latino
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European (Finnish)
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East Asian
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allele num: 7050
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.212187e6

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 6.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.504e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1944
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656451880072884e-5
allele num: 60370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.299857e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.401e-1

QD
type: SiteQuality
SIO_000300: 7.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 38934
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.533385600418136e-5
allele num: 61224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.154e0

DP
type: SiteQuality
SIO_000300: 1.320428e6

QD
type: SiteQuality
SIO_000300: 1.07e1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 5.687e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.44766111093201e-5
allele num: 62038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.234567901234568e-4
allele num: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 1.1937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 1.338277e6

GenotypeQuality
all individuals: 3913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.157635467980295e-5
allele num: 16240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 5.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.885e0

VQSLOD
type: SiteQuality
SIO_000300: -1.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.344443e6

GenotypeQuality
all individuals: 40173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.209482341557813e-4
allele num: 8268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 7.076e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.360295e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

GenotypeQuality
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.75e1
variant carriers: 41

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

GenotypeQuality
all individuals: 2265
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.674669279764821e-4
allele num: 16328
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 4.085556356645037e-3
allele num: 8322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.165859372526673e-5
allele num: 63174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.366729e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

QD
type: SiteQuality
SIO_000300: 1.196e1

GenotypeDepth
all individuals: 51
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11214
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36785
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3003
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 36497
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variant carriers: 0

GenotypeQuality
all individuals: 2455
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7003
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variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.876264867743653e-5
allele num: 11266
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

FS
type: SiteQuality
SIO_000300: 1.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.492673e6

GenotypeDepth
all individuals: 5739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2010
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37150
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7150
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 3.175e0

DP
type: SiteQuality
SIO_000300: 1.506598e6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

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

Latino
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allele count: 4
allele frequency: 3.495281370150297e-4
allele num: 11444
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 26
allele frequency: 3.938439166262724e-4
allele num: 66016
num of homozygotes: 0

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

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

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -4.5e-2

MQRankSum
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SIO_000300: -1.178e0

DP
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SIO_000300: 1.516261e6

FS
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.659e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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DP
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ReadPosRankSum
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SIO_000300: 1.3e-2

QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 1
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allele num: 16412
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MQRankSum
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SIO_000300: -1.481e0

MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -1.069e0

QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

African
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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
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num of homozygotes: 0

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

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

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

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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FS
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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DP
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 9.015360614424577e-3
allele num: 66664
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Other
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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allele count: 1
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allele num: 66690
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 8.64902266043937e-5
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

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

Other
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allele count: 0
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele num: 66712
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East Asian
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ReadPosRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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Other
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QD
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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South Asian
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Other
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 3.273e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.562706e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6195
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36674
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2208
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7398
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
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: 0
allele frequency: 0.0e0
allele num: 16496
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: 9778
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.56171e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.541e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.035e0

VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

FS
type: SiteQuality
SIO_000300: 2.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.272e0

GenotypeDepth
all individuals: 79
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2252
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36394
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11913
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36713
bin: 6.25e1
variant carriers: 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: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.214e1

QD
type: SiteQuality
SIO_000300: 4.5e0

VQSLOD
type: SiteQuality
SIO_000300: -3.555e0