5-94275946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94275946
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94275946
    reference: chr 5
allele count: 1
allele frequency: 8.680254157841742e-6
allele num: 115204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.342-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.487-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.399-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.399-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.345-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.399-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.399-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1062-47C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.45-47C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-94278009-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278009
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278009
    reference: chr 5
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+43A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+43A>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94278012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278012
    reference: chr 5
allele count: 4
allele frequency: 3.33028057613854e-5
allele num: 120110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+40T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+40T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-94278016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278016
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278016
    reference: chr 5
allele count: 2
allele frequency: 1.665251203143994e-5
allele num: 120102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+36G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+36G>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

5-94278025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278025
    reference: chr 5
allele count: 2344
allele frequency: 1.948041154862623e-2
allele num: 120326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+27C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+27C>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19029
  bin: 2.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 2.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 3.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 3.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11766
  bin: 9.75e1
  variant carriers: 2187
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 129
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-94278036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278036
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278036
    reference: chr 5
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+16C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+16C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-94278049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278049
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278049
    reference: chr 5
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1061+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.398+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.341+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.398+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.486+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.344+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.398+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.44+3A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.398+3A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27917
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1061+3A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-94278065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278065
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278065
    reference: chr 5
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.473T>C
  hgvsp: ENST00000503301.1:c.473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1048T>C
  hgvsp: ENST00000515393.1:c.1048T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.385T>C
  hgvsp: ENST00000505208.1:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.385T>C
  hgvsp: ENST00000312216.8:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.31T>C
  hgvsp: ENST00000512425.1:c.31T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.328T>C
  hgvsp: ENST00000514780.1:c.328T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.385T>C
  hgvsp: ENST00000429576.2:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.331T>C
  hgvsp: ENST00000507214.1:c.331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.358T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.385T>C
  hgvsp: ENST00000508509.1:c.385T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu350Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-94278084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278084
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278084
    reference: chr 5
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.454C>T
  hgvsp: ENST00000503301.1:c.454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.309C>T
  hgvsp: ENST00000514780.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.366C>T
  hgvsp: ENST00000508509.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.339C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.366C>T
  hgvsp: ENST00000505208.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.312C>T
  hgvsp: ENST00000507214.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.366C>T
  hgvsp: ENST00000312216.8:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.366C>T
  hgvsp: ENST00000429576.2:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1029C>T
  hgvsp: ENST00000515393.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.12C>T
  hgvsp: ENST00000512425.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala343Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

5-94278084-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278084
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278084
    reference: chr 5
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.339C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1029C>A
  hgvsp: ENST00000515393.1:c.1029C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.366C>A
  hgvsp: ENST00000429576.2:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.366C>A
  hgvsp: ENST00000508509.1:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.309C>A
  hgvsp: ENST00000514780.1:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.366C>A
  hgvsp: ENST00000505208.1:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.312C>A
  hgvsp: ENST00000507214.1:c.312C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.12C>A
  hgvsp: ENST00000512425.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.366C>A
  hgvsp: ENST00000312216.8:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.454C>A
  hgvsp: ENST00000503301.1:c.454C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala343Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-94278087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278087
    reference: chr 5
allele count: 3
allele frequency: 2.480363786688714e-5
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.363A>G
  hgvsp: ENST00000505208.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.363A>G
  hgvsp: ENST00000312216.8:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.306A>G
  hgvsp: ENST00000514780.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.363A>G
  hgvsp: ENST00000429576.2:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1026A>G
  hgvsp: ENST00000515393.1:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.451A>G
  hgvsp: ENST00000503301.1:c.451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.363A>G
  hgvsp: ENST00000508509.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.309A>G
  hgvsp: ENST00000507214.1:c.309A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.336A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.9A>G
  hgvsp: ENST00000512425.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser342Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-94278088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278088
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278088
    reference: chr 5
allele count: 4
allele frequency: 3.307151715584953e-5
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.362C>T
  hgvsp: ENSP00000426438.1:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.450C>T
  hgvsp: ENSP00000425515.1:p.Ser151Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.1025C>T
  hgvsp: ENSP00000424126.1:p.Ser342Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.362C>T
  hgvsp: ENSP00000423410.1:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.305C>T
  hgvsp: ENSP00000421543.1:p.Ser102Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.362C>T
  hgvsp: ENSP00000308957.8:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.308C>T
  hgvsp: ENSP00000424936.1:p.Ser103Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.335C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.8C>T
  hgvsp: ENSP00000431075.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.362C>T
  hgvsp: ENSP00000391639.2:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser342Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-94278129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278129
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278129
    reference: chr 5
allele count: 30096
allele frequency: 2.493289591410677e-1
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.984A>G
  hgvsp: ENST00000515393.1:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.321A>G
  hgvsp: ENST00000429576.2:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.321A>G
  hgvsp: ENST00000505208.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.321A>G
  hgvsp: ENST00000508509.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.294A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.366A>G
  hgvsp: ENST00000510732.1:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.350A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.321A>G
  hgvsp: ENST00000312216.8:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.267A>G
  hgvsp: ENST00000507214.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.409A>G
  hgvsp: ENST00000503301.1:c.409A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.264A>G
  hgvsp: ENST00000514780.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 4.75e1
  variant carriers: 2355
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 1892
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 3.25e1
  variant carriers: 858
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 2659
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.75e1
  variant carriers: 1372
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 808
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 2303
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 6.25e1
  variant carriers: 2566
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 1079
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 1877
genotype quality: GenotypeQuality
hgvs: c.984A>G
num of homozygotes: 4218
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-94278138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278138
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278138
    reference: chr 5
allele count: 2
allele frequency: 1.659916340216453e-5
allele num: 120488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-7A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-7A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.982-7A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-94278152-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278151
    reference: chr 5
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-22delC
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-22delC
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: AG
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS

5-94278154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278154
    reference: chr 5
allele count: 30239
allele frequency: 2.536062934013217e-1
allele num: 119236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-23G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-23G>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 1569
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 1.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.75e1
  variant carriers: 4191
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 861
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 1988
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.75e1
  variant carriers: 3293
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 4172
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.25e1
  variant carriers: 3437
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 2553
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 1004
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 384
genotype quality: GenotypeQuality
num of homozygotes: 4228
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-94278165-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278165
    reference: chr 5
allele count: 1
allele frequency: 8.511217785040683e-6
allele num: 117492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-34T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-34T>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-94278168-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278168
    reference: chr 5
allele count: 5
allele frequency: 4.256405890865753e-5
allele num: 117470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-37A>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-37A>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

5-94278171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278171
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278171
    reference: chr 5
allele count: 1
allele frequency: 8.562816824222497e-6
allele num: 116784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-40G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-40G>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-94278174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94278174
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94278174
    reference: chr 5
allele count: 59
allele frequency: 5.059166523752358e-4
allele num: 116620
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.982-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.262-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.407-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.348-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.265-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.292-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.319-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.319-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.364-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-36-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.319-43T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.319-43T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-94288876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288876
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288876
    reference: chr 5
allele count: 1
allele frequency: 8.858651358917118e-6
allele num: 112884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+47C>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+47C>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

5-94288885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288885
    reference: chr 5
allele count: 1
allele frequency: 8.820520057862612e-6
allele num: 113372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+38T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+38T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-94288897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288897
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288897
    reference: chr 5
allele count: 4
allele frequency: 3.50809492904878e-5
allele num: 114022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+26G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+26G>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

5-94288901-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288901
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288901
    reference: chr 5
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+22T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+22T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-94288913-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288913
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288913
    reference: chr 5
allele count: 2
allele frequency: 1.720637324064834e-5
allele num: 116236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+10T>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+10T>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-94288914-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288914
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288914
    reference: chr 5
allele count: 6
allele frequency: 5.155525004296271e-5
allele num: 116380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+9T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+9T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

5-94288919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288919
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288919
    reference: chr 5
allele count: 1
allele frequency: 8.545839885143913e-6
allele num: 117016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.318+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.981+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.291+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.406+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-37+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.318+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.363+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.318+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.261+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.318+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.347+4A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.264+4A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.981+4A>G
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

5-94288927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288927
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288927
    reference: chr 5
allele count: 1
allele frequency: 8.483635067953916e-6
allele num: 117874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.314T>C
  hgvsp: ENSP00000423410.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.257T>C
  hgvsp: ENSP00000421543.1:p.Ile86Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.260T>C
  hgvsp: ENSP00000424936.1:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.343T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.977T>C
  hgvsp: ENSP00000424126.1:p.Ile326Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.359T>C
  hgvsp: ENSP00000422219.1:p.Ile120Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.314T>C
  hgvsp: ENSP00000391639.2:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.314T>C
  hgvsp: ENSP00000308957.8:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.314T>C
  hgvsp: ENSP00000426438.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.287T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.402T>C
  hgvsp: ENSP00000425515.1:p.Ile135Thr
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile326Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

5-94288931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288931
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288931
    reference: chr 5
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.355T>C
  hgvsp: ENSP00000422219.1:p.Tyr119His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.398T>C
  hgvsp: ENSP00000425515.1:p.Tyr134His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.310T>C
  hgvsp: ENSP00000423410.1:p.Tyr104His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.256T>C
  hgvsp: ENSP00000424936.1:p.Tyr86His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.310T>C
  hgvsp: ENSP00000391639.2:p.Tyr104His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.310T>C
  hgvsp: ENSP00000426438.1:p.Tyr104His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.339T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.253T>C
  hgvsp: ENSP00000421543.1:p.Tyr85His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.973T>C
  hgvsp: ENSP00000424126.1:p.Tyr325His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.310T>C
  hgvsp: ENSP00000308957.8:p.Tyr104His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.283T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr325His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-94288934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288934
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288934
    reference: chr 5
allele count: 1
allele frequency: 8.450228156160216e-6
allele num: 118340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.970T>C
  hgvsp: ENST00000515393.1:c.970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.307T>C
  hgvsp: ENST00000429576.2:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.395T>C
  hgvsp: ENST00000503301.1:c.395T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.307T>C
  hgvsp: ENST00000508509.1:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.253T>C
  hgvsp: ENST00000507214.1:c.253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.307T>C
  hgvsp: ENST00000505208.1:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.280T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.352T>C
  hgvsp: ENST00000510732.1:c.352T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.250T>C
  hgvsp: ENST00000514780.1:c.250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.307T>C
  hgvsp: ENST00000312216.8:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.336T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu324Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-94288936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288936
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288936
    reference: chr 5
allele count: 1
allele frequency: 8.44694474008751e-6
allele num: 118386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.334C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.968C>T
  hgvsp: ENSP00000424126.1:p.Pro323Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.248C>T
  hgvsp: ENSP00000421543.1:p.Pro83Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.305C>T
  hgvsp: ENSP00000426438.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.305C>T
  hgvsp: ENSP00000423410.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.350C>T
  hgvsp: ENSP00000422219.1:p.Pro117Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.305C>T
  hgvsp: ENSP00000308957.8:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.251C>T
  hgvsp: ENSP00000424936.1:p.Pro84Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.278C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.393C>T
  hgvsp: ENSP00000425515.1:p.Pro132Leu
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.305C>T
  hgvsp: ENSP00000391639.2:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro323Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-94288941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288941
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288941
    reference: chr 5
allele count: 1
allele frequency: 8.437109783672505e-6
allele num: 118524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-55G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.273G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.243G>A
  hgvsp: ENST00000514780.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.345G>A
  hgvsp: ENST00000510732.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.300G>A
  hgvsp: ENST00000429576.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.329G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.963G>A
  hgvsp: ENST00000515393.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.300G>A
  hgvsp: ENST00000505208.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.388G>A
  hgvsp: ENST00000503301.1:c.388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.300G>A
  hgvsp: ENST00000508509.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.300G>A
  hgvsp: ENST00000312216.8:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.246G>A
  hgvsp: ENST00000507214.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg321Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-94288943-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288943
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288943
    reference: chr 5
allele count: 1
allele frequency: 8.435117079425063e-6
allele num: 118552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.343A>C
  hgvsp: ENST00000510732.1:c.343A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.271A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.298A>C
  hgvsp: ENST00000429576.2:c.298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.961A>C
  hgvsp: ENST00000515393.1:c.961A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-57A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.298A>C
  hgvsp: ENST00000505208.1:c.298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.298A>C
  hgvsp: ENST00000508509.1:c.298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.327A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.244A>C
  hgvsp: ENST00000507214.1:c.244A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.241A>C
  hgvsp: ENST00000514780.1:c.241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.298A>C
  hgvsp: ENST00000312216.8:c.298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.386A>C
  hgvsp: ENST00000503301.1:c.386A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg321Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-94288945-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288945
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288945
    reference: chr 5
allele count: 1
allele frequency: 8.437536914224e-6
allele num: 118518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-59T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.341T>A
  hgvsp: ENSP00000422219.1:p.Leu114His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.269T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.296T>A
  hgvsp: ENSP00000426438.1:p.Leu99His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.959T>A
  hgvsp: ENSP00000424126.1:p.Leu320His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.242T>A
  hgvsp: ENSP00000424936.1:p.Leu81His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.296T>A
  hgvsp: ENSP00000308957.8:p.Leu99His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.384T>A
  hgvsp: ENSP00000425515.1:p.Leu129His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.239T>A
  hgvsp: ENSP00000421543.1:p.Leu80His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.296T>A
  hgvsp: ENSP00000391639.2:p.Leu99His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.296T>A
  hgvsp: ENSP00000423410.1:p.Leu99His
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.325T>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu320His
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

5-94288954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288954
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288954
    reference: chr 5
allele count: 2
allele frequency: 1.691303318337111e-5
allele num: 118252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-68T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.287T>C
  hgvsp: ENSP00000423410.1:p.Val96Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.287T>C
  hgvsp: ENSP00000308957.8:p.Val96Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.950T>C
  hgvsp: ENSP00000424126.1:p.Val317Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.375T>C
  hgvsp: ENSP00000425515.1:p.Val126Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.287T>C
  hgvsp: ENSP00000391639.2:p.Val96Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.287T>C
  hgvsp: ENSP00000426438.1:p.Val96Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.230T>C
  hgvsp: ENSP00000421543.1:p.Val77Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.233T>C
  hgvsp: ENSP00000424936.1:p.Val78Ala
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.260T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.316T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.332T>C
  hgvsp: ENSP00000422219.1:p.Val111Ala
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val317Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-94288955-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288955
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288955
    reference: chr 5
allele count: 1
allele frequency: 8.455801525426595e-6
allele num: 118262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.229G>T
  hgvsp: ENSP00000421543.1:p.Val77Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.286G>T
  hgvsp: ENSP00000308957.8:p.Val96Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-69G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.286G>T
  hgvsp: ENSP00000423410.1:p.Val96Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.286G>T
  hgvsp: ENSP00000426438.1:p.Val96Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.331G>T
  hgvsp: ENSP00000422219.1:p.Val111Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.315G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.286G>T
  hgvsp: ENSP00000391639.2:p.Val96Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.232G>T
  hgvsp: ENSP00000424936.1:p.Val78Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.374G>T
  hgvsp: ENSP00000425515.1:p.Val126Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.949G>T
  hgvsp: ENSP00000424126.1:p.Val317Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.259G>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val317Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-94288961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288961
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288961
    reference: chr 5
allele count: 1
allele frequency: 8.482627578718784e-6
allele num: 117888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.325A>G
  hgvsp: ENSP00000422219.1:p.Ile109Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.280A>G
  hgvsp: ENSP00000423410.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.280A>G
  hgvsp: ENSP00000308957.8:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.368A>G
  hgvsp: ENSP00000425515.1:p.Ile124Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.280A>G
  hgvsp: ENSP00000426438.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.226A>G
  hgvsp: ENSP00000424936.1:p.Ile76Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.309A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.253A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.223A>G
  hgvsp: ENSP00000421543.1:p.Ile75Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.943A>G
  hgvsp: ENSP00000424126.1:p.Ile315Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.280A>G
  hgvsp: ENSP00000391639.2:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-75A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile315Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

5-94288986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94288986
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94288986
    reference: chr 5
allele count: 1
allele frequency: 8.799408679736721e-6
allele num: 113644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.255C>T
  hgvsp: ENST00000508509.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.201C>T
  hgvsp: ENST00000507214.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.255C>T
  hgvsp: ENST00000505208.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.255C>T
  hgvsp: ENST00000429576.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.255C>T
  hgvsp: ENST00000312216.8:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.918C>T
  hgvsp: ENST00000515393.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.284C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.343C>T
  hgvsp: ENST00000503301.1:c.343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.198C>T
  hgvsp: ENST00000514780.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.228C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.300C>T
  hgvsp: ENST00000510732.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-100C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn306Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-94289000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289000
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289000
    reference: chr 5
allele count: 2
allele frequency: 1.838573267144696e-5
allele num: 108780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.241C>T
  hgvsp: ENSP00000422317.1:p.His81Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.187C>T
  hgvsp: ENSP00000424936.1:p.His63Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.214C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.904C>T
  hgvsp: ENSP00000424126.1:p.His302Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.286C>T
  hgvsp: ENSP00000422219.1:p.His96Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.241C>T
  hgvsp: ENSP00000308957.8:p.His81Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-114C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.329C>T
  hgvsp: ENSP00000425515.1:p.His111Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.241C>T
  hgvsp: ENSP00000391639.2:p.His81Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.184C>T
  hgvsp: ENSP00000421543.1:p.His62Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.270C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.241C>T
  hgvsp: ENSP00000426438.1:p.His81Tyr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.241C>T
  hgvsp: ENSP00000423410.1:p.His81Tyr
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His302Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

5-94289001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289001
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289001
    reference: chr 5
allele count: 1
allele frequency: 9.223050247177746e-6
allele num: 108424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.240A>G
  hgvsp: ENSP00000422317.1:p.Ile80Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.328A>G
  hgvsp: ENSP00000425515.1:p.Ile110Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-115A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.285A>G
  hgvsp: ENSP00000422219.1:p.Ile95Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.183A>G
  hgvsp: ENSP00000421543.1:p.Ile61Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.240A>G
  hgvsp: ENSP00000391639.2:p.Ile80Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.903A>G
  hgvsp: ENSP00000424126.1:p.Ile301Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.240A>G
  hgvsp: ENSP00000426438.1:p.Ile80Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.240A>G
  hgvsp: ENSP00000308957.8:p.Ile80Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.269A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.213A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.186A>G
  hgvsp: ENSP00000424936.1:p.Ile62Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.240A>G
  hgvsp: ENSP00000423410.1:p.Ile80Met
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile301Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

5-94289006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289006
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289006
    reference: chr 5
allele count: 1
allele frequency: 9.380511050242018e-6
allele num: 106604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.280A>G
  hgvsp: ENSP00000422219.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.235A>G
  hgvsp: ENSP00000422317.1:p.Ile79Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.235A>G
  hgvsp: ENSP00000308957.8:p.Ile79Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.323A>G
  hgvsp: ENSP00000425515.1:p.Ile109Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.178A>G
  hgvsp: ENSP00000421543.1:p.Ile60Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.264A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.898A>G
  hgvsp: ENSP00000424126.1:p.Ile300Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.235A>G
  hgvsp: ENSP00000391639.2:p.Ile79Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.181A>G
  hgvsp: ENSP00000424936.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.235A>G
  hgvsp: ENSP00000423410.1:p.Ile79Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.208A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.235A>G
  hgvsp: ENSP00000426438.1:p.Ile79Val
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-120A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile300Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-94289007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289007
    reference: chr 5
allele count: 2
allele frequency: 1.884090737809933e-5
allele num: 106152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.234G>A
  hgvsp: ENST00000505465.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.279G>A
  hgvsp: ENST00000510732.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.234G>A
  hgvsp: ENST00000312216.8:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.234G>A
  hgvsp: ENST00000429576.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.177G>A
  hgvsp: ENST00000514780.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.322G>A
  hgvsp: ENST00000503301.1:c.322G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.897G>A
  hgvsp: ENST00000515393.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.234G>A
  hgvsp: ENST00000508509.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.263G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.207G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.234G>A
  hgvsp: ENST00000505208.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.180G>A
  hgvsp: ENST00000507214.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-121G>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys299Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-94289008-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289008
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289008
    reference: chr 5
allele count: 1
allele frequency: 9.443762394938143e-6
allele num: 105890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.233A>C
  hgvsp: ENSP00000308957.8:p.Lys78Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.206A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.233A>C
  hgvsp: ENSP00000391639.2:p.Lys78Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.176A>C
  hgvsp: ENSP00000421543.1:p.Lys59Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.179A>C
  hgvsp: ENSP00000424936.1:p.Lys60Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.278A>C
  hgvsp: ENSP00000422219.1:p.Lys93Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.896A>C
  hgvsp: ENSP00000424126.1:p.Lys299Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.233A>C
  hgvsp: ENSP00000422317.1:p.Lys78Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.321A>C
  hgvsp: ENSP00000425515.1:p.Lys108Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-122A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.233A>C
  hgvsp: ENSP00000423410.1:p.Lys78Thr
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.262A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.233A>C
  hgvsp: ENSP00000426438.1:p.Lys78Thr
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys299Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-94289014-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289014
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289014
    reference: chr 5
allele count: 2
allele frequency: 1.93229247178853e-5
allele num: 103504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.173G>T
  hgvsp: ENSP00000424936.1:p.Arg58Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-128G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.315G>T
  hgvsp: ENSP00000425515.1:p.Arg106Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.227G>T
  hgvsp: ENSP00000391639.2:p.Arg76Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.227G>T
  hgvsp: ENSP00000423410.1:p.Arg76Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.890G>T
  hgvsp: ENSP00000424126.1:p.Arg297Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.227G>T
  hgvsp: ENSP00000308957.8:p.Arg76Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.170G>T
  hgvsp: ENSP00000421543.1:p.Arg57Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.227G>T
  hgvsp: ENSP00000426438.1:p.Arg76Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.227G>T
  hgvsp: ENSP00000422317.1:p.Arg76Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.256G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.272G>T
  hgvsp: ENSP00000422219.1:p.Arg91Ile
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.200G>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22455
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg297Ile
num of homozygotes: 1
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-94289021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289021
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289021
    reference: chr 5
allele count: 2
allele frequency: 1.968852749502865e-5
allele num: 101582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.193G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.166G>T
  hgvsp: ENSP00000424936.1:p.Val56Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.220G>T
  hgvsp: ENSP00000391639.2:p.Val74Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.265G>T
  hgvsp: ENSP00000422219.1:p.Val89Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.220G>T
  hgvsp: ENSP00000423410.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.220G>T
  hgvsp: ENSP00000308957.8:p.Val74Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.220G>T
  hgvsp: ENSP00000422317.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.163G>T
  hgvsp: ENSP00000421543.1:p.Val55Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.883G>T
  hgvsp: ENSP00000424126.1:p.Val295Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-135G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.249G>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.308G>T
  hgvsp: ENSP00000425515.1:p.Val104Phe
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.220G>T
  hgvsp: ENSP00000426438.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val295Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

5-94289030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289030
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289030
    reference: chr 5
allele count: 1
allele frequency: 1.010877036917229e-5
allele num: 98924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.299G>A
  hgvsp: ENSP00000425515.1:p.Gly101Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.154G>A
  hgvsp: ENSP00000421543.1:p.Gly52Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.874G>A
  hgvsp: ENSP00000424126.1:p.Gly292Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.211G>A
  hgvsp: ENSP00000423410.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.211G>A
  hgvsp: ENSP00000391639.2:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.240G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.211G>A
  hgvsp: ENSP00000422317.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.157G>A
  hgvsp: ENSP00000424936.1:p.Gly53Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.184G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.211G>A
  hgvsp: ENSP00000308957.8:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.256G>A
  hgvsp: ENSP00000422219.1:p.Gly86Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.211G>A
  hgvsp: ENSP00000426438.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-7G>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly292Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-94289033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289033
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289033
    reference: chr 5
allele count: 27
allele frequency: 2.764580602883355e-4
allele num: 97664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.253G>A
  hgvsp: ENSP00000422219.1:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.296G>A
  hgvsp: ENSP00000425515.1:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.871G>A
  hgvsp: ENSP00000424126.1:p.Gly291Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.208G>A
  hgvsp: ENSP00000423410.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.154G>A
  hgvsp: ENSP00000424936.1:p.Gly52Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.151G>A
  hgvsp: ENSP00000421543.1:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.208G>A
  hgvsp: ENSP00000426438.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-10G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.208G>A
  hgvsp: ENSP00000308957.8:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.208G>A
  hgvsp: ENSP00000391639.2:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.181G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.208G>A
  hgvsp: ENSP00000422317.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.237G>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly291Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-94289034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289034
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289034
    reference: chr 5
allele count: 3
allele frequency: 3.076986194588607e-5
allele num: 97498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.153C>T
  hgvsp: ENST00000507214.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.207C>T
  hgvsp: ENST00000505465.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.207C>T
  hgvsp: ENST00000505208.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.150C>T
  hgvsp: ENST00000514780.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.252C>T
  hgvsp: ENST00000510732.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.870C>T
  hgvsp: ENST00000515393.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-11C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.207C>T
  hgvsp: ENST00000429576.2:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.207C>T
  hgvsp: ENST00000508509.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.295C>T
  hgvsp: ENST00000503301.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.236C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.180C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.207C>T
  hgvsp: ENST00000312216.8:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile290Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-94289048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289048
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289048
    reference: chr 5
allele count: 1
allele frequency: 1.068033749866496e-5
allele num: 93630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.166G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.193G>A
  hgvsp: ENSP00000422317.1:p.Val65Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.136G>A
  hgvsp: ENSP00000421543.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.193G>A
  hgvsp: ENSP00000426438.1:p.Val65Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.193G>A
  hgvsp: ENSP00000308957.8:p.Val65Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.193G>A
  hgvsp: ENSP00000423410.1:p.Val65Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-25G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.193G>A
  hgvsp: ENSP00000391639.2:p.Val65Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.856G>A
  hgvsp: ENSP00000424126.1:p.Val286Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.139G>A
  hgvsp: ENSP00000424936.1:p.Val47Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.281G>A
  hgvsp: ENSP00000425515.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.222G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.238G>A
  hgvsp: ENSP00000422219.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val286Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-94289061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289061
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289061
    reference: chr 5
allele count: 2
allele frequency: 2.223309173373649e-5
allele num: 89956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.180G>A
  hgvsp: ENST00000508509.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.153G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.268G>A
  hgvsp: ENST00000503301.1:c.268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.180G>A
  hgvsp: ENST00000505208.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.123G>A
  hgvsp: ENST00000514780.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.180G>A
  hgvsp: ENST00000505465.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.843G>A
  hgvsp: ENST00000515393.1:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.209G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.225G>A
  hgvsp: ENST00000510732.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.180G>A
  hgvsp: ENST00000429576.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-38G>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.180G>A
  hgvsp: ENST00000312216.8:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.126G>A
  hgvsp: ENST00000507214.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14656
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr281Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-94289062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289062
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289062
    reference: chr 5
allele count: 2
allele frequency: 2.233089926531341e-5
allele num: 89562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.122C>T
  hgvsp: ENSP00000421543.1:p.Thr41Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.179C>T
  hgvsp: ENSP00000391639.2:p.Thr60Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.208C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.224C>T
  hgvsp: ENSP00000422219.1:p.Thr75Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-39C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.179C>T
  hgvsp: ENSP00000423410.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.267C>T
  hgvsp: ENSP00000425515.1:p.Thr90Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.842C>T
  hgvsp: ENSP00000424126.1:p.Thr281Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.179C>T
  hgvsp: ENSP00000422317.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.152C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.179C>T
  hgvsp: ENSP00000426438.1:p.Thr60Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.125C>T
  hgvsp: ENSP00000424936.1:p.Thr42Met
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.179C>T
  hgvsp: ENSP00000308957.8:p.Thr60Met
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr281Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

5-94289069-TTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289069
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289065
    reference: chr 5
allele count: 2
allele frequency: 2.275623520844711e-5
allele num: 87888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-8_122-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-8_205-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-8_176-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-8_119-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-8_221-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-8_176-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-8_264-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-8_176-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-8_149-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-8_839-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-8_176-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-8_176-5delTTTA
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-50_-137-47delTTTA
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.839-8_839-5delTTTA
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: TTAAA
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94289074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289074
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289074
    reference: chr 5
allele count: 1
allele frequency: 1.153855029654074e-5
allele num: 86666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-51A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-9A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-9A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-94289074-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289074
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289072
    reference: chr 5
allele count: 1
allele frequency: 1.153855029654074e-5
allele num: 86666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-11_176-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-11_149-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-53_-137-52delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-11_176-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-11_221-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-11_122-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-11_119-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-11_205-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-11_839-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-11_264-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-11_176-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-11_176-10delCT
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-11_176-10delCT
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: TAG
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-94289077-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289077
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289077
    reference: chr 5
allele count: 1
allele frequency: 1.162034024356233e-5
allele num: 86056
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-54T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-12T>A
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-12T>A
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-94289078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289078
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289078
    reference: chr 5
allele count: 3
allele frequency: 3.492921013412817e-5
allele num: 85888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-13A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-55A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

5-94289088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289088
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289088
    reference: chr 5
allele count: 64
allele frequency: 7.756259543834986e-4
allele num: 82514
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-65G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-23G>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-23G>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94289089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289089
    reference: chr 5
allele count: 3
allele frequency: 3.624589213222502e-5
allele num: 82768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-24T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-66T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-24T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-94289090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289090
    reference: chr 5
allele count: 1
allele frequency: 1.208167210341911e-5
allele num: 82770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-67A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-25A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-25A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-94289105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289105
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289105
    reference: chr 5
allele count: 1
allele frequency: 1.265566467550876e-5
allele num: 79016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-82C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-40C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-40C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-94289108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289108
    reference: chr 5
allele count: 1
allele frequency: 1.276813074565884e-5
allele num: 78320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-85A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-43A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-43A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94289109-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289109
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289109
    reference: chr 5
allele count: 1
allele frequency: 1.282149908967357e-5
allele num: 77994
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-86A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-44A>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-44A>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-94289110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289110
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289110
    reference: chr 5
allele count: 1
allele frequency: 1.303237241307408e-5
allele num: 76732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-87C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-45C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-45C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

5-94289112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289112
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289112
    reference: chr 5
allele count: 1
allele frequency: 1.311819493637675e-5
allele num: 76230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-47T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-89T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-47T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-94289113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94289113
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94289113
    reference: chr 5
allele count: 3
allele frequency: 3.930714603914992e-5
allele num: 76322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.264-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.205-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.176-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.176-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-90T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.839-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.176-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.122-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.176-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000512568
  gene symbol: MCTP1
  hgvsc: ENST00000512568.1:n.149-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.221-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.119-48T>C
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.176-48T>C
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17524
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-94353020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94353020
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94353020
    reference: chr 5
allele count: 2
allele frequency: 1.663201663201663e-5
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.175+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.175+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.263+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.175+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-63997C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.220+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.121+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.175+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.175+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.838+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.204+51C>T
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.118+51C>T
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

5-94353021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94353021
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94353021
    reference: chr 5
allele count: 2
allele frequency: 1.661239949498306e-5
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424936
  ensembl transcript: ENST00000507214
  gene symbol: MCTP1
  hgvsc: ENST00000507214.1:c.121+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000426438
  ensembl transcript: ENST00000505208
  gene symbol: MCTP1
  hgvsc: ENST00000505208.1:c.175+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000431075
  ensembl transcript: ENST00000512425
  gene symbol: MCTP1
  hgvsc: ENST00000512425.1:c.-137-63998A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422219
  ensembl transcript: ENST00000510732
  gene symbol: MCTP1
  hgvsc: ENST00000510732.1:c.220+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000424126
  ensembl transcript: ENST00000515393
  gene symbol: MCTP1
  hgvsc: ENST00000515393.1:c.838+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000423410
  ensembl transcript: ENST00000508509
  gene symbol: MCTP1
  hgvsc: ENST00000508509.1:c.175+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000391639
  ensembl transcript: ENST00000429576
  gene symbol: MCTP1
  hgvsc: ENST00000429576.2:c.175+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000425515
  ensembl transcript: ENST00000503301
  gene symbol: MCTP1
  hgvsc: ENST00000503301.1:c.263+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000308957
  ensembl transcript: ENST00000312216
  gene symbol: MCTP1
  hgvsc: ENST00000312216.8:c.175+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000422317
  ensembl transcript: ENST00000505465
  gene symbol: MCTP1
  hgvsc: ENST00000505465.1:c.175+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl transcript: ENST00000513695
  gene symbol: MCTP1
  hgvsc: ENST00000513695.1:n.204+50A>G
  variant of: http://identifiers.org/hgnc/26183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175471
  ensembl protein: ENSP00000421543
  ensembl transcript: ENST00000514780
  gene symbol: MCTP1
  hgvsc: ENST00000514780.1:c.118+50A>G
  variant of: http://identifiers.org/hgnc/26183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 6862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 692
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562109472631842e-5
allele num: 64016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.846e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 4.03e0

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.765e0

DP
type: SiteQuality
SIO_000300: 1.769572e6

GenotypeQuality
all individuals: 1101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.857395925597875e-5
allele num: 11290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.623e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

DP
type: SiteQuality
SIO_000300: 1.927816e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.127e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 941
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10335
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23993
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7359
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.541076487252125e-4
allele num: 11296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.942e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.936387e6

FS
type: SiteQuality
SIO_000300: 3.96e0

VQSLOD
type: SiteQuality
SIO_000300: -4.59e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.42e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

GenotypeQuality
all individuals: 633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10346
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.770224818551956e-4
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 1.717e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.946671e6

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1603
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 481
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2088
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 25875
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7324
bin: 6.75e1
variant carriers: 6

Latino
type: Population
allele count: 119
allele frequency: 1.051422512811451e-2
allele num: 11318
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 567
allele frequency: 8.560816523734751e-3
allele num: 66232
num of homozygotes: 2

African
type: Population
allele count: 1450
allele frequency: 1.399343756031654e-1
allele num: 10362
num of homozygotes: 126

European (Finnish)
type: Population
allele count: 139
allele frequency: 2.128637059724349e-2
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 53
allele frequency: 3.229344382159396e-3
allele num: 16412
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.662971175166297e-2
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.998512e6

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.79e-2

FS
type: SiteQuality
SIO_000300: 7.11e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 27643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.369e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.972381e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeQuality
all individuals: 7731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10223
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
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variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.361e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.344e1

VQSLOD
type: SiteQuality
SIO_000300: -2.144e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.977927e6

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7746
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28055
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10229
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.499e0

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.65e-2

DP
type: SiteQuality
SIO_000300: 1.980779e6

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2180
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10233
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 1.982072e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

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

GenotypeQuality
all individuals: 28106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 2180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10233
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75530981218185e-4
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

DP
type: SiteQuality
SIO_000300: 1.982072e6

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10232
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.632502632502633e-4
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.07e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.982126e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
all individuals: 3167
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2181
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 7756
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10232
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.010518407212622e-5
allele num: 66550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.458e0

DP
type: SiteQuality
SIO_000300: 1.982051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

GenotypeDepth
all individuals: 1590
bin: 7.75e1
variant carriers: 1489

GenotypeDepth
all individuals: 14651
bin: 2.75e1
variant carriers: 443

GenotypeDepth
all individuals: 2975
bin: 9.75e1
variant carriers: 2647

GenotypeDepth
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bin: 5.25e1
variant carriers: 2637

GenotypeDepth
all individuals: 583
bin: 9.25e1
variant carriers: 530

GenotypeDepth
all individuals: 170
bin: 1.75e1
variant carriers: 117

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1003
bin: 8.25e1
variant carriers: 35

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 73

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 9

GenotypeQuality
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bin: 4.25e1
variant carriers: 10

GenotypeQuality
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bin: 4.75e1
variant carriers: 12

GenotypeQuality
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bin: 2.75e1
variant carriers: 6

GenotypeQuality
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bin: 2.25e1
variant carriers: 14

GenotypeQuality
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bin: 6.75e1
variant carriers: 30

GenotypeQuality
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bin: 7.25e1
variant carriers: 29

GenotypeQuality
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bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 34

GenotypeQuality
all individuals: 1557
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variant carriers: 40

GenotypeQuality
all individuals: 28413
bin: 9.75e1
variant carriers: 25575

GenotypeQuality
all individuals: 21755
bin: 6.25e1
variant carriers: 19

South Asian
type: Population
allele count: 4184
allele frequency: 2.54068496478018e-1
allele num: 16468
num of homozygotes: 577

East Asian
type: Population
allele count: 4379
allele frequency: 5.088310481059726e-1
allele num: 8606
num of homozygotes: 1124

Latino
type: Population
allele count: 1507
allele frequency: 1.326818101778482e-1
allele num: 11358
num of homozygotes: 109

European (Finnish)
type: Population
allele count: 1492
allele frequency: 2.271619975639464e-1
allele num: 6568
num of homozygotes: 165

African
type: Population
allele count: 2158
allele frequency: 2.079398728078628e-1
allele num: 10378
num of homozygotes: 215

European (Non-Finnish)
type: Population
allele count: 16158
allele frequency: 2.432408020714157e-1
allele num: 66428
num of homozygotes: 1998

Other
type: Population
allele count: 218
allele frequency: 2.416851441241685e-1
allele num: 902
num of homozygotes: 30

FS
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.746949e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.93e-2

GenotypeDepth
all individuals: 11207
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9200
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variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 7201
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3731
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 2492
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1384
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variant carriers: 0

GenotypeQuality
all individuals: 2342
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variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015954398769491e-5
allele num: 66314
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.186e0

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 2.111e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.135315e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.117e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeDepth
all individuals: 3111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
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variant carriers: 0

GenotypeQuality
all individuals: 3657
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variant carriers: 0

GenotypeQuality
all individuals: 544
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GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2336
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GenotypeQuality
all individuals: 1890
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variant carriers: 0

GenotypeQuality
all individuals: 1301
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variant carriers: 0

GenotypeQuality
all individuals: 1099
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variant carriers: 0

GenotypeQuality
all individuals: 422
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GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
all individuals: 3097
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variant carriers: 0

GenotypeQuality
all individuals: 20907
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variant carriers: 0

GenotypeQuality
all individuals: 1189
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GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 12035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6447
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.083611e6

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.033e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.208e0

QD
type: SiteQuality
SIO_000300: 7.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 1072
bin: 9.75e1
variant carriers: 767

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 17

GenotypeQuality
all individuals: 1344
bin: 7.25e1
variant carriers: 127

GenotypeQuality
all individuals: 692
bin: 2.75e1
variant carriers: 26

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 42

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 84

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 85

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 73

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 220

GenotypeQuality
all individuals: 789
bin: 3.75e1
variant carriers: 50

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 14

GenotypeQuality
all individuals: 1952
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variant carriers: 40

GenotypeQuality
all individuals: 1161
bin: 3.25e1
variant carriers: 39

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 140

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 256

GenotypeQuality
all individuals: 17490
bin: 6.25e1
variant carriers: 148

GenotypeQuality
all individuals: 4315
bin: 6.75e1
variant carriers: 175

GenotypeQuality
all individuals: 27058
bin: 9.75e1
variant carriers: 24353

GenotypeQuality
all individuals: 717
bin: 9.25e1
variant carriers: 259

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 16019
allele frequency: 2.44326154597035e-1
allele num: 65564
num of homozygotes: 1954

Latino
type: Population
allele count: 1524
allele frequency: 1.360228489825062e-1
allele num: 11204
num of homozygotes: 112

South Asian
type: Population
allele count: 4173
allele frequency: 2.548863913999511e-1
allele num: 16372
num of homozygotes: 573

European (Finnish)
type: Population
allele count: 1479
allele frequency: 2.274684712396186e-1
allele num: 6502
num of homozygotes: 162

Other
type: Population
allele count: 220
allele frequency: 2.439024390243902e-1
allele num: 902
num of homozygotes: 30

East Asian
type: Population
allele count: 4326
allele frequency: 5.113475177304965e-1
allele num: 8460
num of homozygotes: 1106

African
type: Population
allele count: 2498
allele frequency: 2.441360437842064e-1
allele num: 10232
num of homozygotes: 291

BaseQRankSum
type: SiteQuality
SIO_000300: -2.214e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
SIO_000300: 1.818e1

DP
type: SiteQuality
SIO_000300: 2.065256e6

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 4742
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GenotypeQuality
all individuals: 5352
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variant carriers: 0

GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 2360
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variant carriers: 0

GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 4524
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variant carriers: 0

GenotypeQuality
all individuals: 2201
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variant carriers: 0

GenotypeQuality
all individuals: 619
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GenotypeQuality
all individuals: 2338
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GenotypeQuality
all individuals: 4661
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GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 1932
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variant carriers: 0

GenotypeQuality
all individuals: 1280
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variant carriers: 0

GenotypeQuality
all individuals: 1870
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variant carriers: 0

GenotypeQuality
all individuals: 1527
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GenotypeQuality
all individuals: 823
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variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 5.25e1
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GenotypeQuality
all individuals: 4713
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.974067424695791e-5
allele num: 10026
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 3.358e0

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: -1.664e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

DP
type: SiteQuality
SIO_000300: 1.575063e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.747e0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
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GenotypeQuality
all individuals: 2347
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GenotypeQuality
all individuals: 20790
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4599
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 4740
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GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 84
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GenotypeQuality
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GenotypeQuality
all individuals: 1526
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GenotypeQuality
all individuals: 620
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GenotypeQuality
all individuals: 1862
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GenotypeQuality
all individuals: 4713
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-4
allele num: 6454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.182189113164972e-5
allele num: 64702
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.571766e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.783e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 3.814e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeDepth
all individuals: 227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 1585
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GenotypeQuality
all individuals: 2286
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variant carriers: 0

GenotypeQuality
all individuals: 5121
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GenotypeQuality
all individuals: 4500
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GenotypeQuality
all individuals: 1775
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GenotypeQuality
all individuals: 616
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GenotypeQuality
all individuals: 2490
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 1067
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GenotypeQuality
all individuals: 353
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GenotypeQuality
all individuals: 1519
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GenotypeQuality
all individuals: 483
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GenotypeQuality
all individuals: 3470
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GenotypeQuality
all individuals: 5648
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GenotypeQuality
all individuals: 16175
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GenotypeQuality
all individuals: 4898
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GenotypeQuality
all individuals: 822
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GenotypeQuality
all individuals: 4707
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554629687208507e-5
allele num: 64324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.126e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.439e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.533836e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 5.835010060362173e-3
allele num: 9940
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.556904873112253e-5
allele num: 64230
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

InbreedingCoeff
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SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

DP
type: SiteQuality
SIO_000300: 1.515999e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

South Asian
type: Population
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
allele num: 11014
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.347e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
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SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.323712e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

QD
type: SiteQuality
SIO_000300: 2.146e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1426
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.595252528475258e-5
allele num: 62686
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.357004e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 35146
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 999
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.353643814727746e-5
allele num: 62956
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
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SIO_000300: 1.427665e6

BaseQRankSum
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SIO_000300: -2.532e0

InbreedingCoeff
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SIO_000300: 2.8e-3

QD
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SIO_000300: 1.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 1.025e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 342
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581377696248972e-5
allele num: 63236
num of homozygotes: 0

South Asian
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allele num: 14594
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQRankSum
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MQ
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DP
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VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 2.538e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 590
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.126661038676797e-5
allele num: 63966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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SIO_000300: -6.042999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3028
bin: 2.25e1
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GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.367974019485386e-5
allele num: 64048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.504368e6

BaseQRankSum
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SIO_000300: 2.39e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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South Asian
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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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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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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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East Asian
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South 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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Latino
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ReadPosRankSum
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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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South Asian
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African
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Latino
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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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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Other
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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DP
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QD
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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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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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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ClippingRankSum
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DP
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.581e1

GenotypeDepth
all individuals: 954
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 46428
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 1080
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536523155403952e-5
allele num: 65082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 1.55678e6

BaseQRankSum
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SIO_000300: 1.46e0

InbreedingCoeff
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SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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
all individuals: 376
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variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.545e0

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.08e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.55571e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeDepth
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variant carriers: 0

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
all individuals: 1048
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GenotypeQuality
all individuals: 2100
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
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SIO_000300: -2.479e0

QD
type: SiteQuality
SIO_000300: 7.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.181e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 1.5025e1

DP
type: SiteQuality
SIO_000300: 1.556601e6

GenotypeDepth
all individuals: 2612
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547843853512058e-5
allele num: 64606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.551706e6

GenotypeDepth
all individuals: 30503
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeDepth
all individuals: 654
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6044
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variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624009354293881e-5
allele num: 61576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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SIO_000300: -6.52e-1

DP
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VQSLOD
type: SiteQuality
SIO_000300: -5.35e-1

InbreedingCoeff
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SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeDepth
all individuals: 164
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 868
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.018163471241171e-4
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.12e-1

InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.248e0

DP
type: SiteQuality
SIO_000300: 1.4252e6

GenotypeDepth
all individuals: 153
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 845
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.726340503400891e-5
allele num: 57926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
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Latino
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African
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele 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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Latino
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East Asian
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allele frequency: 0.0e0
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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European (Non-Finnish)
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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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European (Finnish)
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Latino
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Other
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VQSLOD
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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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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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

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

European (Non-Finnish)
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allele num: 56222
num of homozygotes: 0

Latino
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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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Other
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East Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 53430
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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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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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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
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allele frequency: 1.689902830587241e-3
allele num: 14202
num of homozygotes: 0

African
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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
allele num: 7288
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 5.880969183721477e-5
allele num: 51012
num of homozygotes: 0

Other
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BaseQRankSum
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DP
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ReadPosRankSum
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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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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 1.095290251916758e-4
allele num: 9130
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.930508607813851e-5
allele num: 50884
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European (Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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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: 5766
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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.054316118164263e-5
allele num: 48678
num of homozygotes: 0

South Asian
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
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

South Asian
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East Asian
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allele num: 6932
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African
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allele num: 8980
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Other
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

South Asian
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African
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East Asian
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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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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Other
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East Asian
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European (Non-Finnish)
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African
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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: 8.065817067268914e-5
allele num: 12398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

DP
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SIO_000300: 1.089621e6

FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 4.9e-3

BaseQRankSum
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SIO_000300: 3.53e0

QD
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SIO_000300: 1.308e1

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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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44652
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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num of homozygotes: 0

East Asian
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allele frequency: 1.477541371158392e-4
allele num: 6768
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 4.9e-3

FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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QD
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ClippingRankSum
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SIO_000300: -8.9e-1

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: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44310
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.482359916987845e-4
allele num: 6746
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
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SIO_000300: 1.123e1

ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.5e-2

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.077378e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1588
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 4.451038575667656e-4
allele num: 6740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44218
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12244
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

BaseQRankSum
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SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
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SIO_000300: 6.0e1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.667e0

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 3

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: 62
allele frequency: 7.207626133457335e-3
allele num: 8602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.524390243902439e-3
allele num: 656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.355748373101952e-4
allele num: 7376
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
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QD
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -6.840000000000001e-1

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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Other
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allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 6554
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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
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

South Asian
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Other
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African
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allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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QD
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FS
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MQ
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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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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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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FS
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QD
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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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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South Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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QD
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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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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African
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allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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