12-3029908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029908
    reference: chr 12
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12692G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.94-21G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1520G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1520G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.37-21G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.94-21G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

12-3029910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029910
    reference: chr 12
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12690C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1518C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1518C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.94-19C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.37-19C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.94-19C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-3029914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029914
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029914
    reference: chr 12
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12686T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1514T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.37-15T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1514T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.94-15T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.94-15T>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

12-3029915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029915
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029915
    reference: chr 12
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1513C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.37-14C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12685C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.94-14C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1513C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.94-14C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-3029923-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029923
    reference: chr 12
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.94-6T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1505T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12677T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.94-6T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1505T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.37-6T>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: c.94-6T>G
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-3029930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029930
    reference: chr 12
allele count: 9
allele frequency: 7.42623275463727e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.38G>A
  hgvsp: ENSP00000444110.1:p.Arg13Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12670G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1498G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1498G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.95G>A
  hgvsp: ENSP00000410051.2:p.Arg32Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.95G>A
  hgvsp: ENSP00000380321.2:p.Arg32Lys
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 16543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg32Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-3029935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029935
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1493C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.100C>T
  hgvsp: ENST00000397132.2:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1493C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.43C>T
  hgvsp: ENST00000540184.1:c.43C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.100C>T
  hgvsp: ENST00000448120.2:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12665C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu34Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

12-3029941-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029941
    reference: chr 12
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12659G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.49G>C
  hgvsp: ENSP00000444110.1:p.Glu17Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.106G>C
  hgvsp: ENSP00000380321.2:p.Glu36Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1487G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.106G>C
  hgvsp: ENSP00000410051.2:p.Glu36Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1487G>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu36Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-3029943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029943
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.108G>A
  hgvsp: ENST00000397132.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1485G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12657G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.51G>A
  hgvsp: ENST00000540184.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1485G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.108G>A
  hgvsp: ENST00000448120.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu36Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-3029948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029948
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1480G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.56G>A
  hgvsp: ENSP00000444110.1:p.Arg19Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.113G>A
  hgvsp: ENSP00000380321.2:p.Arg38Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.113G>A
  hgvsp: ENSP00000410051.2:p.Arg38Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12652G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1480G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17471
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg38Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-3029963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029963
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.128G>A
  hgvsp: ENSP00000410051.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1465G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1465G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.128G>A
  hgvsp: ENSP00000380321.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12637G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.71G>A
  hgvsp: ENSP00000444110.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16791
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg43His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-3029964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029964
    reference: chr 12
allele count: 9
allele frequency: 7.41534151767323e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.129C>T
  hgvsp: ENST00000397132.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1464C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12636C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.129C>T
  hgvsp: ENST00000448120.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.72C>T
  hgvsp: ENST00000540184.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1464C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17479
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg43Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-3029965-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029965
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1463C>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.130C>A
  hgvsp: ENSP00000410051.2:p.Leu44Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12635C>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1463C>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.130C>A
  hgvsp: ENSP00000380321.2:p.Leu44Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.73C>A
  hgvsp: ENSP00000444110.1:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu44Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-3029970-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029970
    reference: chr 12
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1458G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.78G>T
  hgvsp: ENSP00000444110.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.135G>T
  hgvsp: ENSP00000410051.2:p.Glu45Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.135G>T
  hgvsp: ENSP00000380321.2:p.Glu45Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12630G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1458G>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17471
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu45Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-3029985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029985
    reference: chr 12
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1443G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1443G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.150G>T
  hgvsp: ENSP00000410051.2:p.Gln50His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12615G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.93G>T
  hgvsp: ENSP00000444110.1:p.Gln31His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.150G>T
  hgvsp: ENSP00000380321.2:p.Gln50His
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17472
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln50His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-3029989-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029989
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029989
    reference: chr 12
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12611A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1439A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.97A>T
  hgvsp: ENSP00000444110.1:p.Asn33Tyr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1439A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.154A>T
  hgvsp: ENSP00000410051.2:p.Asn52Tyr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.154A>T
  hgvsp: ENSP00000380321.2:p.Asn52Tyr
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17468
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Asn52Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-3029996-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3029996
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1432A>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1432A>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.161A>C
  hgvsp: ENSP00000380321.2:p.Glu54Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.104A>C
  hgvsp: ENSP00000444110.1:p.Glu35Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.161A>C
  hgvsp: ENSP00000410051.2:p.Glu54Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12604A>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17464
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu54Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-3030003-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030003
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1425G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.168G>T
  hgvsp: ENSP00000410051.2:p.Arg56Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.111G>T
  hgvsp: ENSP00000444110.1:p.Arg37Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1425G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.168G>T
  hgvsp: ENSP00000380321.2:p.Arg56Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12597G>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg56Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-3030007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030007
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.172C>T
  hgvsp: ENSP00000380321.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.115C>T
  hgvsp: ENSP00000444110.1:p.Arg39Cys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.172C>T
  hgvsp: ENSP00000410051.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1421C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1421C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12593C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg58Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

12-3030008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030008
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1420G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.173G>A
  hgvsp: ENSP00000410051.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.116G>A
  hgvsp: ENSP00000444110.1:p.Arg39His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12592G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1420G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.173G>A
  hgvsp: ENSP00000380321.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg58His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-3030010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030010
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12590C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.175C>G
  hgvsp: ENSP00000380321.2:p.Arg59Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.118C>G
  hgvsp: ENSP00000444110.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.175C>G
  hgvsp: ENSP00000410051.2:p.Arg59Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1418C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1418C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg59Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-3030010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030010
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.175C>T
  hgvsp: ENSP00000410051.2:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.118C>T
  hgvsp: ENSP00000444110.1:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.175C>T
  hgvsp: ENSP00000380321.2:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12590C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1418C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1418C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg59Trp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-3030011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030011
    reference: chr 12
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12589G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1417G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.176G>A
  hgvsp: ENSP00000410051.2:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.176G>A
  hgvsp: ENSP00000380321.2:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.119G>A
  hgvsp: ENSP00000444110.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1417G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg59Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-3030019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030019
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030019
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.127C>T
  hgvsp: ENSP00000444110.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1409C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.184C>T
  hgvsp: ENSP00000410051.2:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12581C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.184C>T
  hgvsp: ENSP00000380321.2:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1409C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro62Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-3030022-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030022
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.187A>C
  hgvsp: ENST00000448120.2:c.187A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.187A>C
  hgvsp: ENST00000397132.2:c.187A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1406A>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.130A>C
  hgvsp: ENST00000540184.1:c.130A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1406A>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12578A>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg63Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-3030022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030022
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030022
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.187A>G
  hgvsp: ENSP00000410051.2:p.Arg63Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.130A>G
  hgvsp: ENSP00000444110.1:p.Arg44Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12578A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1406A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.187A>G
  hgvsp: ENSP00000380321.2:p.Arg63Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1406A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg63Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-3030039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030039
    reference: chr 12
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1389G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.147G>A
  hgvsp: ENST00000540184.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.204G>A
  hgvsp: ENST00000397132.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12561G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1389G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.204G>A
  hgvsp: ENST00000448120.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17449
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln68Gln
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-3030043-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030043
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.151C>G
  hgvsp: ENSP00000444110.1:p.Pro51Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1385C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1385C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12557C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.208C>G
  hgvsp: ENSP00000380321.2:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.208C>G
  hgvsp: ENSP00000410051.2:p.Pro70Ala
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro70Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

12-3030049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030049
    reference: chr 12
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.214G>A
  hgvsp: ENSP00000410051.2:p.Val72Met
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1379G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1379G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12551G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.157G>A
  hgvsp: ENSP00000444110.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.214G>A
  hgvsp: ENSP00000380321.2:p.Val72Met
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val72Met
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

12-3030074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030074
    reference: chr 12
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.182A>G
  hgvsp: ENSP00000444110.1:p.Asn61Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.239A>G
  hgvsp: ENSP00000410051.2:p.Asn80Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12526A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.239A>G
  hgvsp: ENSP00000380321.2:p.Asn80Ser
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1354A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1354A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn80Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

12-3030075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030075
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030075
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.183T>C
  hgvsp: ENST00000540184.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1353T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12525T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1353T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.240T>C
  hgvsp: ENST00000397132.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.240T>C
  hgvsp: ENST00000448120.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn80Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-3030081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030081
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12519C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.246C>T
  hgvsp: ENST00000397132.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.189C>T
  hgvsp: ENST00000540184.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1347C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1347C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.246C>T
  hgvsp: ENST00000448120.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile82Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

12-3030085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030085
    reference: chr 12
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12515C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.193C>G
  hgvsp: ENSP00000444110.1:p.His65Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1343C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.250C>G
  hgvsp: ENSP00000380321.2:p.His84Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.250C>G
  hgvsp: ENSP00000410051.2:p.His84Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1343C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His84Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum

12-3030085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030085
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.250C>T
  hgvsp: ENSP00000410051.2:p.His84Tyr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.193C>T
  hgvsp: ENSP00000444110.1:p.His65Tyr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12515C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.250C>T
  hgvsp: ENSP00000380321.2:p.His84Tyr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1343C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1343C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16749
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His84Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

12-3030086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030086
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030086
    reference: chr 12
allele count: 26
allele frequency: 2.142704092564817e-4
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1342A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1342A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.194A>G
  hgvsp: ENSP00000444110.1:p.His65Arg
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.251A>G
  hgvsp: ENSP00000410051.2:p.His84Arg
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.251A>G
  hgvsp: ENSP00000380321.2:p.His84Arg
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12514A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17445
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His84Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-3030092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030092
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12508T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1336T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+4T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+4T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1336T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+4T>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16715
  bin: 6.25e1
  variant carriers: 0
hgvs: c.253+4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-3030095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030095
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1333A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+7A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+7A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1333A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+7A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12505A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.253+7A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-3030100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030100
    reference: chr 12
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+12G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1328G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1328G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12500G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+12G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+12G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-3030103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030103
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1325A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1325A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+15A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+15A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12497A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+15A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-3030105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030105
    reference: chr 12
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+17C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1323C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+17C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+17C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12495C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1323C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-3030113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030113
    reference: chr 12
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1315C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12487C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+25C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+25C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+25C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1315C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

12-3030114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030114
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030114
    reference: chr 12
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+26C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1314C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+26C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1314C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12486C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+26C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-3030115-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030115
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+27T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1313T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+27T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12485T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1313T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+27T>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-3030119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030119
    reference: chr 12
allele count: 29
allele frequency: 2.393331682759759e-4
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+31G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1309G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+31G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1309G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+31G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12481G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-3030127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030127
    reference: chr 12
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1301A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+39A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1301A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+39A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+39A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12473A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17376
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-3030129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030129
    reference: chr 12
allele count: 2
allele frequency: 1.651336757104876e-5
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12471T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1299T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+41T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+41T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1299T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+41T>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

12-3030131-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030131
    reference: chr 12
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+43T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1297T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+43T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12469T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+43T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1297T>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-3030132-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030132
    reference: chr 12
allele count: 2
allele frequency: 1.651936896010573e-5
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+44C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+44C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+44C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1296C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12468C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1296C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-3030138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030138
    reference: chr 12
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1290C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+50C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+50C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1290C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+50C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12462C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
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: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-3030138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3030138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3030138
    reference: chr 12
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.253+50C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.253+50C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-1290C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.196+50C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-12462C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-1290C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17370
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

12-3031385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031385
    reference: chr 12
allele count: 1
allele frequency: 8.427439743805831e-6
allele num: 118660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-43T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-43T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11215T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-43T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-43T>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-43T>C
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

12-3031391-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031391
    reference: chr 12
allele count: 1
allele frequency: 8.421761832575375e-6
allele num: 118740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-37G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11209G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-37G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-37G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-37G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-37G>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

12-3031392-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031392
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031392
    reference: chr 12
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-36C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-36C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-36C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-36C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-36C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11208C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7720
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-3031407-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031407
    reference: chr 12
allele count: 2
allele frequency: 1.671458180116333e-5
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-21T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-21T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11193T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-21T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-21T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-21T>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7718
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-3031414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031414
    reference: chr 12
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-14A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11186A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-14A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-14A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-14A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-14A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

12-3031421-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031421
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11179C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254-7C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94-7C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197-7C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94-7C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254-7C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: c.254-7C>G
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-3031428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031428
    reference: chr 12
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254G>A
  hgvsp: ENSP00000380321.2:p.Gly85Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94G>A
  hgvsp: ENSP00000441599.1:p.Val32Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11172G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94G>A
  hgvsp: ENSP00000437899.1:p.Val32Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197G>A
  hgvsp: ENSP00000444110.1:p.Gly66Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254G>A
  hgvsp: ENSP00000410051.2:p.Gly85Asp
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly85Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-3031428-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031428
    reference: chr 12
allele count: 3
allele frequency: 2.477127852825577e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.94G>T
  hgvsp: ENSP00000437899.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.254G>T
  hgvsp: ENSP00000380321.2:p.Gly85Val
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.254G>T
  hgvsp: ENSP00000410051.2:p.Gly85Val
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11172G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.197G>T
  hgvsp: ENSP00000444110.1:p.Gly66Val
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.94G>T
  hgvsp: ENSP00000441599.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7718
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly85Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-3031434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031434
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031434
    reference: chr 12
allele count: 8
allele frequency: 6.597611664577422e-5
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.260A>G
  hgvsp: ENSP00000410051.2:p.Asp87Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.100A>G
  hgvsp: ENSP00000437899.1:p.Met34Val
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11166A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.203A>G
  hgvsp: ENSP00000444110.1:p.Asp68Gly
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.100A>G
  hgvsp: ENSP00000441599.1:p.Met34Val
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.260A>G
  hgvsp: ENSP00000380321.2:p.Asp87Gly
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12760
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp87Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-3031443-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031443
    reference: chr 12
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.212C>A
  hgvsp: ENSP00000444110.1:p.Ala71Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.269C>A
  hgvsp: ENSP00000410051.2:p.Ala90Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.109C>A
  hgvsp: ENSP00000437899.1:p.Leu37Met
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11157C>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.109C>A
  hgvsp: ENSP00000441599.1:p.Leu37Met
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.269C>A
  hgvsp: ENSP00000380321.2:p.Ala90Asp
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7712
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala90Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

12-3031448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031448
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.217G>A
  hgvsp: ENSP00000444110.1:p.Val73Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.114G>A
  hgvsp: ENST00000545331.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.274G>A
  hgvsp: ENSP00000410051.2:p.Val92Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.114G>A
  hgvsp: ENST00000538354.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11152G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.274G>A
  hgvsp: ENSP00000380321.2:p.Val92Ile
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val92Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

12-3031459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031459
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031459
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.228A>G
  hgvsp: ENST00000540184.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.285A>G
  hgvsp: ENST00000397132.2:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.285A>G
  hgvsp: ENST00000448120.2:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11141A>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-3031460-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031460
    reference: chr 12
allele count: 13
allele frequency: 1.07106958656714e-4
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.286G>C
  hgvsp: ENSP00000410051.2:p.Asp96His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*6G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11140G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*6G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.286G>C
  hgvsp: ENSP00000380321.2:p.Asp96His
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.229G>C
  hgvsp: ENSP00000444110.1:p.Asp77His
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7712
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp96His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-3031462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031462
    reference: chr 12
allele count: 8
allele frequency: 6.591306067297235e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.288C>T
  hgvsp: ENST00000397132.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.288C>T
  hgvsp: ENST00000448120.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.231C>T
  hgvsp: ENST00000540184.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11138C>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7707
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp96Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-3031463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031463
    reference: chr 12
allele count: 8
allele frequency: 6.591197455797781e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.289G>A
  hgvsp: ENSP00000410051.2:p.Glu97Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.289G>A
  hgvsp: ENSP00000380321.2:p.Glu97Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.232G>A
  hgvsp: ENSP00000444110.1:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11137G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu97Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-3031467-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031467
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031467
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.293T>A
  hgvsp: ENSP00000410051.2:p.Val98Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11133T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.236T>A
  hgvsp: ENSP00000444110.1:p.Val79Asp
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*13T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*13T>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.293T>A
  hgvsp: ENSP00000380321.2:p.Val98Asp
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val98Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-3031472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031472
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031472
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.298G>A
  hgvsp: ENSP00000380321.2:p.Ala100Thr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11128G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.298G>A
  hgvsp: ENSP00000410051.2:p.Ala100Thr
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.241G>A
  hgvsp: ENSP00000444110.1:p.Ala81Thr
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala100Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

12-3031477-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031477
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*23A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*23A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11123A>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.303A>T
  hgvsp: ENST00000448120.2:c.303A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.246A>T
  hgvsp: ENST00000540184.1:c.246A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.303A>T
  hgvsp: ENST00000397132.2:c.303A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro101Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

12-3031490-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031490
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11110T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*36T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.316T>G
  hgvsp: ENSP00000380321.2:p.Ser106Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.259T>G
  hgvsp: ENSP00000444110.1:p.Ser87Ala
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*36T>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.316T>G
  hgvsp: ENSP00000410051.2:p.Ser106Ala
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser106Ala
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-3031493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031493
    reference: chr 12
allele count: 36
allele frequency: 2.96545247862403e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.262G>A
  hgvsp: ENSP00000444110.1:p.Val88Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.319G>A
  hgvsp: ENSP00000410051.2:p.Val107Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.319G>A
  hgvsp: ENSP00000380321.2:p.Val107Ile
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11107G>A
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val107Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-3031496-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031496
    reference: chr 12
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.265G>T
  hgvsp: ENSP00000444110.1:p.Val89Leu
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*42G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11104G>T
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.322G>T
  hgvsp: ENSP00000380321.2:p.Val108Leu
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.322G>T
  hgvsp: ENSP00000410051.2:p.Val108Leu
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*42G>T
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val108Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-3031511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031511
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.337G>C
  hgvsp: ENSP00000380321.2:p.Glu113Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11089G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*57G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.337G>C
  hgvsp: ENSP00000410051.2:p.Glu113Gln
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*57G>C
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.280G>C
  hgvsp: ENSP00000444110.1:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu113Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-3031519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3031519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 3031519
    reference: chr 12
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000437899
  ensembl transcript: ENST00000538354
  gene symbol: TULP3
  hgvsc: ENST00000538354.1:c.*65C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000380321
  ensembl transcript: ENST00000397132
  gene symbol: TULP3
  hgvsc: ENST00000397132.2:c.345C>G
  hgvsp: ENST00000397132.2:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000444110
  ensembl transcript: ENST00000540184
  gene symbol: TULP3
  hgvsc: ENST00000540184.1:c.288C>G
  hgvsp: ENST00000540184.1:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000442631
  ensembl transcript: ENST00000544943
  gene symbol: TULP3
  hgvsc: ENST00000544943.1:c.-107-11081C>G
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000410051
  ensembl transcript: ENST00000448120
  gene symbol: TULP3
  hgvsc: ENST00000448120.2:c.345C>G
  hgvsp: ENST00000448120.2:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12425
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078246
  ensembl protein: ENSP00000441599
  ensembl transcript: ENST00000545331
  gene symbol: TULP3
  hgvsc: ENST00000545331.1:c.*65C>G
  variant of: http://identifiers.org/hgnc/12425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr115Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17488
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.289334e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

FS
type: SiteQuality
SIO_000300: 6.092e0

GenotypeQuality
all individuals: 16214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17488
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.024e1

ReadPosRankSum
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SIO_000300: 1.92e0

BaseQRankSum
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SIO_000300: -4.003e0

DP
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SIO_000300: 2.29049e6

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

ClippingRankSum
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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
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bin: 9.25e1
variant carriers: 0

African
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.006614552014432e-5
allele num: 66520
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

FS
type: SiteQuality
SIO_000300: 2.528e0

VQSLOD
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.893e0

VQSLOD
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DP
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SIO_000300: 2.29282e6

ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: -1.678e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
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SIO_000300: 2.295239e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
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allele 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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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.042149143121816e-3
allele num: 8636
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ReadPosRankSum
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FS
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SIO_000300: 1.891e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

InbreedingCoeff
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SIO_000300: 1.51e-2

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 2.29763e6

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
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SIO_000300: -2.583e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.801e0

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 5.3972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.298519e6

MQ
type: SiteQuality
SIO_000300: 5.771e1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
type: Population
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num of homozygotes: 0

VQSLOD
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ClippingRankSum
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MQ
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QD
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66660
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East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
type: Population
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allele num: 906
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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allele num: 16506
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Latino
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66706
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African
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South Asian
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East Asian
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Latino
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Other
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
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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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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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South Asian
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allele frequency: 5.451241671714113e-4
allele num: 16510
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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FS
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -6.66e-1

BaseQRankSum
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SIO_000300: -4.446e0

DP
type: SiteQuality
SIO_000300: 2.300566e6

GenotypeQuality
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bin: 2.5e0
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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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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FS
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QD
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MQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.028100775193798e-4
allele num: 16512
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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FS
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SIO_000300: 1.777e0

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.301144e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.084e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
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

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

FS
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 5.97e1

DP
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QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
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SIO_000300: 8.120000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 6.31e0

VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 5.32e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11578
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European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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QD
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4541
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 2.300988e6

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.158e0

DP
type: SiteQuality
SIO_000300: 2.300697e6

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5224
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.261e0

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.889e0

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.300732e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.889e0

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

DP
type: SiteQuality
SIO_000300: 2.300732e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 16834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7365
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 1

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 2.851e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.300519e6

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17448
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.663e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 2.300405e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

MQRankSum
type: SiteQuality
SIO_000300: -1.493e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.469e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.300233e6

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.299037e6

QD
type: SiteQuality
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MQRankSum
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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: 16508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 2.299021e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.907e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
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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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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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QD
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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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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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

QD
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SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 2.29805e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
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SIO_000300: -1.187e0

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
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SIO_000300: 2.29805e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.45e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 24
allele frequency: 1.454016721192294e-3
allele num: 16506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -5.9e-2

QD
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SIO_000300: 1.301e1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
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SIO_000300: 2.298071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
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SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 3.303e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
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SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 2.29623e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.295624e6

QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 6.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.294253e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.292964e6

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.03e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
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: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
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
allele num: 16476
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European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

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

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

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

East Asian
type: Population
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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: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.169e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 2.279259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.561e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 15186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

East Asian
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allele count: 29
allele frequency: 3.354152209114041e-3
allele num: 8646
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.603e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

DP
type: SiteQuality
SIO_000300: 2.274091e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5027
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GenotypeQuality
all individuals: 3592
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.417e0

VQSLOD
type: SiteQuality
SIO_000300: -6.67e-2

DP
type: SiteQuality
SIO_000300: 2.257526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.557e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 2250
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
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: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 7.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 2.254304e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
all individuals: 497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 13069
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variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.609e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 2.250063e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.616e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2

GenotypeQuality
all individuals: 4397
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variant carriers: 0

GenotypeQuality
all individuals: 12602
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
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: 66534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 2.247919e6

QD
type: SiteQuality
SIO_000300: 1.546e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 2.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2179
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GenotypeQuality
all individuals: 4890
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 1.805e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 2.237858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

East Asian
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allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 7.951e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.19832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.200045e6

BaseQRankSum
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SIO_000300: -1.439e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0218783996132e-5
allele num: 66184
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 2.220917e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

DP
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SIO_000300: 2.230983e6

QD
type: SiteQuality
SIO_000300: 1.53e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 1.4714e1

MQRankSum
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SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.212723658051689e-5
allele num: 16096
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 2.239474e6

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.244233e6

QD
type: SiteQuality
SIO_000300: 1.197e1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 2.244233e6

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.256354128663505e-4
allele num: 16446
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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QD
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SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.2459e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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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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East Asian
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

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

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

African
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num of homozygotes: 0

Other
type: Population
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.199328376109379e-4
allele num: 66704
num of homozygotes: 0

Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.248494e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 8

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.248198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.805e0

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.24782e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

FS
type: SiteQuality
SIO_000300: 5.407e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.247875e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.854e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 1.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.213e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
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: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.216e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.595e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.835e1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

DP
type: SiteQuality
SIO_000300: 2.247932e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 2.248048e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.706e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 36

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
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allele count: 34
allele frequency: 3.26734576206035e-3
allele num: 10406
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.250534e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele num: 11578
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

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

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.894e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.826e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele num: 6614
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African
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East Asian
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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