17-52982931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982931
    reference: chr 17
allele count: 1
allele frequency: 9.044208089139715e-6
allele num: 110568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4647A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4647A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1778A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+3A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1778A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+3A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.222+3A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-52982932-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982931
    reference: chr 17
allele count: 1
allele frequency: 9.045189768081334e-6
allele num: 110556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1780delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4649delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+5delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1780delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4649delG
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+5delG
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.222+5delG
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: AG
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-52982935-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982935
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982935
    reference: chr 17
allele count: 1
allele frequency: 9.171955827860732e-6
allele num: 109028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4651A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4651A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1782A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1782A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+7A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+7A>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.222+7A>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-52982944-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982944
    reference: chr 17
allele count: 2
allele frequency: 1.919901701032907e-5
allele num: 104172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1791T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4660T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1791T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4660T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+16T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+16T>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-52982950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982950
    reference: chr 17
allele count: 1
allele frequency: 9.920831762534971e-6
allele num: 100798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4666T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1797T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1797T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4666T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+22T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-52982954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982954
    reference: chr 17
allele count: 2
allele frequency: 2.019671601397613e-5
allele num: 99026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1801G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4670G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1801G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4670G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+26G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-52982958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982958
    reference: chr 17
allele count: 1
allele frequency: 1.03143823747834e-5
allele num: 96952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4674C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4674C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1805C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1805C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+30C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+30C>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-52982959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982959
    reference: chr 17
allele count: 1
allele frequency: 1.037882719252724e-5
allele num: 96350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4675G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1806G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4675G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1806G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+31G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+31G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-52982962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982962
    reference: chr 17
allele count: 1
allele frequency: 1.061571125265393e-5
allele num: 94200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4678G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4678G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1809G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1809G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+34G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24512
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-52982975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52982975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52982975
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 85812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+1822A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+4691A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-18+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+4691A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+1822A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+47A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+47A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-52984144-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52984144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52984144
    reference: chr 17
allele count: 1
allele frequency: 5.555555555555555e-2
allele num: 18
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+2991G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+2991G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-10+5860G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-13G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.227G>C
  hgvsp: ENSP00000460565.1:p.Arg76Pro
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-10+5860G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+1216G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+1216G>C
  variant of: http://identifiers.org/hgnc/11983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg76Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-52984173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52984173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52984173
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 20
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-10+26T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.222+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*133+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-5854T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-10+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.211+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.143+3020T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-5854T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.222+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.192+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.222+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.222+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.230+26T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.117+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.218+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.117+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.222+1245T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-10+3020T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-52989985-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52989985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52989985
    reference: chr 17
allele count: 203
allele frequency: 2.154257577043892e-3
allele num: 94232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-63T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1124T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-42T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-42T>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-52989992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52989992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52989992
    reference: chr 17
allele count: 1
allele frequency: 1.050309841403214e-5
allele num: 95210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1117G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-35G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-56G>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-52989995-AAATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52989995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52989990
    reference: chr 17
allele count: 1
allele frequency: 1.043427450489367e-5
allele num: 95838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-28_-9-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-28_223-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1110_212-1106delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-28_-9-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-28_118-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-28_219-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-28_118-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-28_*134-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-28_-9-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-28_-9-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-28_193-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-28_223-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-28_223-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-28_144-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-28_223-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-49_223-45delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-28_-9-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-28_231-24delATAAT
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: AAATAT
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

17-52990000-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990000
    reference: chr 17
allele count: 2
allele frequency: 2.052166061277678e-5
allele num: 97458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-48T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1109T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-27T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-27T>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-52990005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990005
    reference: chr 17
allele count: 1
allele frequency: 1.00080064051241e-5
allele num: 99920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1104T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-22T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-43T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-22T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28503
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

17-52990009-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990010
    reference: chr 17
allele count: 69
allele frequency: 6.807016159264447e-4
allele num: 101366
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-31dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1092dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-10dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-10dupT
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-52990020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990020
    reference: chr 17
allele count: 1
allele frequency: 9.166238908850921e-6
allele num: 109096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-28A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1089A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118-7A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.223-7A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-52990027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990027
    reference: chr 17
allele count: 1
allele frequency: 8.864619530529749e-6
allele num: 112808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223C>G
  hgvsp: ENSP00000458918.1:p.Leu75Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231C>G
  hgvsp: ENSP00000460565.1:p.Cys77Trp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118C>G
  hgvsp: ENSP00000461396.1:p.Leu40Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223C>G
  hgvsp: ENSP00000408958.2:p.Leu75Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223C>G
  hgvsp: ENSP00000458553.1:p.Leu75Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193C>G
  hgvsp: ENSP00000460213.1:p.Leu65Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223C>G
  hgvsp: ENSP00000460823.1:p.Leu75Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219C>G
  hgvsp: ENSP00000461215.1:p.Leu74Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118C>G
  hgvsp: ENSP00000460721.1:p.Leu40Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1082C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144C>G
  hgvsp: ENST00000571319.1:c.144C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-21C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9C>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu75Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-52990027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990027
    reference: chr 17
allele count: 2
allele frequency: 1.77292390610595e-5
allele num: 112808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.193C>T
  hgvsp: ENSP00000460213.1:p.Leu65Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.118C>T
  hgvsp: ENSP00000461396.1:p.Leu40Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.223C>T
  hgvsp: ENSP00000408958.2:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.118C>T
  hgvsp: ENSP00000460721.1:p.Leu40Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.223C>T
  hgvsp: ENSP00000460823.1:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.231C>T
  hgvsp: ENST00000572360.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*134C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.223C>T
  hgvsp: ENSP00000458918.1:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.144C>T
  hgvsp: ENST00000571319.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-21C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.219C>T
  hgvsp: ENSP00000461215.1:p.Leu74Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.223C>T
  hgvsp: ENSP00000458553.1:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1082C>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu75Phe
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-52990028-T-TTATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990032
    reference: chr 17
allele count: 3
allele frequency: 2.645409333004127e-5
allele num: 113404
alternate allele: TTATA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.148_149insATAT
  hgvsp: ENSP00000458219.1:p.Leu50TyrfsTer368
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.227_228insATAT
  hgvsp: ENSP00000458553.1:p.Asp77TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.-5_-4insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.122_123insATAT
  hgvsp: ENSP00000461396.1:p.Asp42TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.235_236insATAT
  hgvsp: ENSP00000460565.1:p.Leu79TyrfsTer?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.227_228insATAT
  hgvsp: ENSP00000460823.1:p.Asp77TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.227_228insATAT
  hgvsp: ENSP00000458918.1:p.Asp77TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.-5_-4insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.-5_-4insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.197_198insATAT
  hgvsp: ENSP00000460213.1:p.Asp67TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.-5_-4insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*138_*139insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.-5_-4insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-17_223-16insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1078_212-1077insATAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.227_228insATAT
  hgvsp: ENSP00000408958.2:p.Asp77TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.223_224insATAT
  hgvsp: ENSP00000461215.1:p.Asp76TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.122_123insATAT
  hgvsp: ENSP00000460721.1:p.Asp42TyrfsTer2
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp77TyrfsTer2
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-52990035-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990033
    reference: chr 17
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*143_*144delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.127_128delAT
  hgvsp: ENSP00000460721.1:p.Met43ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.1_2delAT
  hgvsp: ENSP00000459003.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.232_233delAT
  hgvsp: ENSP00000458918.1:p.Met78ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.240_241delAT
  hgvsp: ENSP00000460565.1:p.Cys83GlnfsTer?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.1_2delAT
  hgvsp: ENSP00000441242.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1073_212-1072delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.202_203delAT
  hgvsp: ENSP00000460213.1:p.Met68ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.228_229delAT
  hgvsp: ENSP00000461215.1:p.Met77ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.1_2delAT
  hgvsp: ENSP00000461876.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.232_233delAT
  hgvsp: ENSP00000408958.2:p.Met78ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.127_128delAT
  hgvsp: ENSP00000461396.1:p.Met43ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.232_233delAT
  hgvsp: ENSP00000460823.1:p.Met78ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-12_223-11delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.232_233delAT
  hgvsp: ENSP00000458553.1:p.Met78ValfsTer20
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.1_2delAT
  hgvsp: ENSP00000443099.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.153_154delAT
  hgvsp: ENSP00000458219.1:p.Cys54GlnfsTer362
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.1_2delAT
  hgvsp: ENSP00000343901.4:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met78ValfsTer20
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: CAT
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-52990038-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990038
    reference: chr 17
allele count: 2
allele frequency: 1.718626473722201e-5
allele num: 116372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1071G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.155G>C
  hgvsp: ENSP00000458219.1:p.Cys52Ser
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.3G>C
  hgvsp: ENSP00000343901.4:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.234G>C
  hgvsp: ENSP00000458918.1:p.Met78Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.204G>C
  hgvsp: ENSP00000460213.1:p.Met68Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-10G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.3G>C
  hgvsp: ENSP00000459003.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.234G>C
  hgvsp: ENSP00000458553.1:p.Met78Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.129G>C
  hgvsp: ENSP00000460721.1:p.Met43Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.3G>C
  hgvsp: ENSP00000461876.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.230G>C
  hgvsp: ENSP00000461215.1:p.Met77Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.234G>C
  hgvsp: ENSP00000408958.2:p.Met78Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.3G>C
  hgvsp: ENSP00000443099.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.3G>C
  hgvsp: ENSP00000441242.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*145G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.242G>C
  hgvsp: ENSP00000460565.1:p.Cys81Ser
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.234G>C
  hgvsp: ENSP00000460823.1:p.Met78Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.129G>C
  hgvsp: ENSP00000461396.1:p.Met43Ile
  variant of: http://identifiers.org/hgnc/11983
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-52990040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990040
    reference: chr 17
allele count: 1
allele frequency: 8.564870327863236e-6
allele num: 116756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.5G>A
  hgvsp: ENSP00000443099.1:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.131G>A
  hgvsp: ENSP00000461396.1:p.Cys44Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.232G>A
  hgvsp: ENSP00000461215.1:p.Cys78Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.244G>A
  hgvsp: ENSP00000460565.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.157G>A
  hgvsp: ENSP00000458219.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.236G>A
  hgvsp: ENSP00000458553.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.5G>A
  hgvsp: ENSP00000461876.1:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.5G>A
  hgvsp: ENSP00000459003.1:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.5G>A
  hgvsp: ENSP00000441242.1:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1069G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.236G>A
  hgvsp: ENSP00000460823.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.206G>A
  hgvsp: ENSP00000460213.1:p.Cys69Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.236G>A
  hgvsp: ENSP00000458918.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-8G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.236G>A
  hgvsp: ENSP00000408958.2:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.5G>A
  hgvsp: ENSP00000343901.4:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.131G>A
  hgvsp: ENSP00000460721.1:p.Cys44Tyr
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys79Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-52990040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990040
    reference: chr 17
allele count: 1
allele frequency: 8.564870327863236e-6
allele num: 116756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-8G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.157G>T
  hgvsp: ENSP00000458219.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.5G>T
  hgvsp: ENSP00000461876.1:p.Cys2Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.206G>T
  hgvsp: ENSP00000460213.1:p.Cys69Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.131G>T
  hgvsp: ENSP00000460721.1:p.Cys44Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.236G>T
  hgvsp: ENSP00000408958.2:p.Cys79Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.236G>T
  hgvsp: ENSP00000460823.1:p.Cys79Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.5G>T
  hgvsp: ENSP00000443099.1:p.Cys2Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.236G>T
  hgvsp: ENSP00000458918.1:p.Cys79Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.244G>T
  hgvsp: ENSP00000460565.1:p.Val82Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.236G>T
  hgvsp: ENSP00000458553.1:p.Cys79Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.131G>T
  hgvsp: ENSP00000461396.1:p.Cys44Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*147G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.232G>T
  hgvsp: ENSP00000461215.1:p.Cys78Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1069G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.5G>T
  hgvsp: ENSP00000343901.4:p.Cys2Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.5G>T
  hgvsp: ENSP00000441242.1:p.Cys2Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.5G>T
  hgvsp: ENSP00000459003.1:p.Cys2Phe
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys79Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

17-52990044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990044
    reference: chr 17
allele count: 1
allele frequency: 8.525730655117144e-6
allele num: 117292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.223-4G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.240G>A
  hgvsp: ENST00000445275.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*151G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.9G>A
  hgvsp: ENST00000540336.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.240G>A
  hgvsp: ENST00000570371.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.135G>A
  hgvsp: ENST00000572405.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.9G>A
  hgvsp: ENST00000576932.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.9G>A
  hgvsp: ENST00000348161.4:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.248G>A
  hgvsp: ENSP00000460565.1:p.Cys83Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.161G>A
  hgvsp: ENSP00000458219.1:p.Cys54Tyr
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.240G>A
  hgvsp: ENST00000575333.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.9G>A
  hgvsp: ENST00000536554.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.240G>A
  hgvsp: ENST00000575882.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.210G>A
  hgvsp: ENST00000575909.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1065G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.9G>A
  hgvsp: ENST00000572298.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.236G>A
  hgvsp: ENST00000570499.1:c.236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.135G>A
  hgvsp: ENST00000573607.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys54Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-52990050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990050
    reference: chr 17
allele count: 1
allele frequency: 8.459664320519762e-6
allele num: 118208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.141C>A
  hgvsp: ENSP00000461396.1:p.Asn47Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.15C>A
  hgvsp: ENSP00000343901.4:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.225C>A
  hgvsp: ENSP00000461284.1:p.Asn75Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.141C>A
  hgvsp: ENSP00000460721.1:p.Asn47Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*157C>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.242C>A
  hgvsp: ENSP00000461215.1:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.254C>A
  hgvsp: ENSP00000460565.1:p.Thr85Asn
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.246C>A
  hgvsp: ENSP00000408958.2:p.Asn82Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.246C>A
  hgvsp: ENSP00000460823.1:p.Asn82Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.15C>A
  hgvsp: ENSP00000461876.1:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.15C>A
  hgvsp: ENSP00000443099.1:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.216C>A
  hgvsp: ENSP00000460213.1:p.Asn72Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.15C>A
  hgvsp: ENSP00000459003.1:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.167C>A
  hgvsp: ENSP00000458219.1:p.Thr56Asn
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.246C>A
  hgvsp: ENSP00000458553.1:p.Asn82Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.15C>A
  hgvsp: ENSP00000441242.1:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.246C>A
  hgvsp: ENSP00000458918.1:p.Asn82Lys
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1059C>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn82Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

17-52990055-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990055
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990055
    reference: chr 17
allele count: 1
allele frequency: 8.422329279385507e-6
allele num: 118732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.230G>T
  hgvsp: ENSP00000461284.1:p.Gly77Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.251G>T
  hgvsp: ENSP00000408958.2:p.Gly84Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.146G>T
  hgvsp: ENSP00000460721.1:p.Gly49Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.20G>T
  hgvsp: ENSP00000343901.4:p.Gly7Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.146G>T
  hgvsp: ENSP00000461396.1:p.Gly49Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.172G>T
  hgvsp: ENSP00000458219.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.20G>T
  hgvsp: ENSP00000459003.1:p.Gly7Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.251G>T
  hgvsp: ENSP00000460823.1:p.Gly84Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.20G>T
  hgvsp: ENSP00000441242.1:p.Gly7Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.247G>T
  hgvsp: ENSP00000461215.1:p.Gly83Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.259G>T
  hgvsp: ENSP00000460565.1:p.Val87Phe
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1054G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.251G>T
  hgvsp: ENSP00000458918.1:p.Gly84Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.221G>T
  hgvsp: ENSP00000460213.1:p.Gly74Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.20G>T
  hgvsp: ENSP00000443099.1:p.Gly7Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.251G>T
  hgvsp: ENSP00000458553.1:p.Gly84Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.20G>T
  hgvsp: ENSP00000461876.1:p.Gly7Val
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*162G>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly84Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum

17-52990099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990099
    reference: chr 17
allele count: 6
allele frequency: 5.005088506648426e-5
allele num: 119878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.265G>C
  hgvsp: ENSP00000460213.1:p.Glu89Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.190G>C
  hgvsp: ENSP00000460721.1:p.Glu64Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.64G>C
  hgvsp: ENSP00000443099.1:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.295G>C
  hgvsp: ENSP00000408958.2:p.Glu99Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.295G>C
  hgvsp: ENSP00000458918.1:p.Glu99Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.64G>C
  hgvsp: ENSP00000441242.1:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1010G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.291G>C
  hgvsp: ENSP00000461215.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.64G>C
  hgvsp: ENSP00000343901.4:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.64G>C
  hgvsp: ENSP00000461876.1:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.64G>C
  hgvsp: ENSP00000459003.1:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.295G>C
  hgvsp: ENSP00000460823.1:p.Glu99Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.295G>C
  hgvsp: ENSP00000458553.1:p.Glu99Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.274G>C
  hgvsp: ENSP00000461284.1:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.190G>C
  hgvsp: ENSP00000461396.1:p.Glu64Gln
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*206G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu99Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-52990101-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990101
    reference: chr 17
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.297G>T
  hgvsp: ENSP00000458918.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1008G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.66G>T
  hgvsp: ENSP00000461876.1:p.Glu22Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.192G>T
  hgvsp: ENSP00000460721.1:p.Glu64Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.192G>T
  hgvsp: ENSP00000461396.1:p.Glu64Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.66G>T
  hgvsp: ENSP00000343901.4:p.Glu22Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.66G>T
  hgvsp: ENSP00000459003.1:p.Glu22Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.267G>T
  hgvsp: ENSP00000460213.1:p.Glu89Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.297G>T
  hgvsp: ENSP00000460823.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.276G>T
  hgvsp: ENSP00000461284.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.66G>T
  hgvsp: ENSP00000443099.1:p.Glu22Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.293G>T
  hgvsp: ENSP00000461215.1:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.66G>T
  hgvsp: ENSP00000441242.1:p.Glu22Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.297G>T
  hgvsp: ENSP00000458553.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.297G>T
  hgvsp: ENSP00000408958.2:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*208G>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu99Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

17-52990101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990101
    reference: chr 17
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.192G>A
  hgvsp: ENST00000573607.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.192G>A
  hgvsp: ENST00000572405.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.66G>A
  hgvsp: ENST00000536554.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.66G>A
  hgvsp: ENST00000576932.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.66G>A
  hgvsp: ENST00000572298.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.297G>A
  hgvsp: ENST00000570371.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.293G>A
  hgvsp: ENST00000570499.1:c.293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.297G>A
  hgvsp: ENST00000575333.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.297G>A
  hgvsp: ENST00000575882.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.276G>A
  hgvsp: ENST00000572158.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.297G>A
  hgvsp: ENST00000445275.2:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.267G>A
  hgvsp: ENST00000575909.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.66G>A
  hgvsp: ENST00000348161.4:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1008G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.66G>A
  hgvsp: ENST00000540336.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu99Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-52990104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990104
    reference: chr 17
allele count: 2
allele frequency: 1.670676289762096e-5
allele num: 119712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.300T>C
  hgvsp: ENST00000570371.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.195T>C
  hgvsp: ENST00000572405.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.270T>C
  hgvsp: ENST00000575909.1:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.69T>C
  hgvsp: ENST00000540336.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.300T>C
  hgvsp: ENST00000575333.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1005T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.69T>C
  hgvsp: ENST00000348161.4:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.69T>C
  hgvsp: ENST00000536554.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.69T>C
  hgvsp: ENST00000572298.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.279T>C
  hgvsp: ENST00000572158.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.300T>C
  hgvsp: ENST00000575882.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.195T>C
  hgvsp: ENST00000573607.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.296T>C
  hgvsp: ENST00000570499.1:c.296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*211T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.69T>C
  hgvsp: ENST00000576932.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.300T>C
  hgvsp: ENST00000445275.2:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn100Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-52990108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990108
    reference: chr 17
allele count: 1
allele frequency: 8.359246999030327e-6
allele num: 119628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.73G>A
  hgvsp: ENSP00000443099.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.274G>A
  hgvsp: ENSP00000460213.1:p.Val92Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-1001G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.304G>A
  hgvsp: ENSP00000408958.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.304G>A
  hgvsp: ENSP00000458553.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.73G>A
  hgvsp: ENSP00000441242.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.199G>A
  hgvsp: ENSP00000460721.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.300G>A
  hgvsp: ENSP00000461215.1:p.Val101Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.199G>A
  hgvsp: ENSP00000461396.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.304G>A
  hgvsp: ENSP00000460823.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.283G>A
  hgvsp: ENSP00000461284.1:p.Val95Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.73G>A
  hgvsp: ENSP00000461876.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.73G>A
  hgvsp: ENSP00000343901.4:p.Val25Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.304G>A
  hgvsp: ENSP00000458918.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.73G>A
  hgvsp: ENSP00000459003.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val102Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-52990110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990110
    reference: chr 17
allele count: 3
allele frequency: 2.50970418953286e-5
allele num: 119536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.306T>C
  hgvsp: ENST00000445275.2:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.306T>C
  hgvsp: ENST00000575882.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-999T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.75T>C
  hgvsp: ENST00000576932.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.302T>C
  hgvsp: ENST00000570499.1:c.302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.75T>C
  hgvsp: ENST00000348161.4:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.276T>C
  hgvsp: ENST00000575909.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.201T>C
  hgvsp: ENST00000572405.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.201T>C
  hgvsp: ENST00000573607.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.306T>C
  hgvsp: ENST00000570371.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.75T>C
  hgvsp: ENST00000540336.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.306T>C
  hgvsp: ENST00000575333.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*217T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.75T>C
  hgvsp: ENST00000536554.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.75T>C
  hgvsp: ENST00000572298.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.285T>C
  hgvsp: ENST00000572158.1:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val102Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-52990113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990113
    reference: chr 17
allele count: 8
allele frequency: 6.697250778555402e-5
allele num: 119452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.309G>A
  hgvsp: ENST00000570371.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.78G>A
  hgvsp: ENST00000536554.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.204G>A
  hgvsp: ENST00000573607.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.204G>A
  hgvsp: ENST00000572405.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.309G>A
  hgvsp: ENST00000575333.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.78G>A
  hgvsp: ENST00000576932.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.78G>A
  hgvsp: ENST00000348161.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.309G>A
  hgvsp: ENST00000445275.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.305G>A
  hgvsp: ENST00000570499.1:c.305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.288G>A
  hgvsp: ENST00000572158.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.78G>A
  hgvsp: ENST00000540336.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.309G>A
  hgvsp: ENST00000575882.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.78G>A
  hgvsp: ENST00000572298.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.279G>A
  hgvsp: ENST00000575909.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-996G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys103Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-52990117-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990118
    reference: chr 17
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.284dupT
  hgvsp: ENSP00000460213.1:p.Asn96GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.209dupT
  hgvsp: ENSP00000461396.1:p.Asn71GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*43dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*43dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.209dupT
  hgvsp: ENSP00000460721.1:p.Asn71GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.314dupT
  hgvsp: ENSP00000460823.1:p.Asn106GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.83dupT
  hgvsp: ENSP00000441242.1:p.Asn29GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.83dupT
  hgvsp: ENSP00000459003.1:p.Asn29GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.83dupT
  hgvsp: ENSP00000461876.1:p.Asn29GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.314dupT
  hgvsp: ENSP00000458918.1:p.Asn106GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.293dupT
  hgvsp: ENSP00000461284.1:p.Asn99GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-991dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.310dupT
  hgvsp: ENSP00000461215.1:p.Asn105GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.314dupT
  hgvsp: ENSP00000408958.2:p.Asn106GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*225dupT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.314dupT
  hgvsp: ENSP00000458553.1:p.Asn106GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.83dupT
  hgvsp: ENSP00000443099.1:p.Asn29GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.83dupT
  hgvsp: ENSP00000343901.4:p.Asn29GlufsTer13
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn106GlufsTer13
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-52990121-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990121
    reference: chr 17
allele count: 2
allele frequency: 1.677486454296882e-5
allele num: 119226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.296A>T
  hgvsp: ENSP00000461284.1:p.Asn99Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.86A>T
  hgvsp: ENSP00000461876.1:p.Asn29Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.317A>T
  hgvsp: ENSP00000460823.1:p.Asn106Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.317A>T
  hgvsp: ENSP00000458918.1:p.Asn106Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.313A>T
  hgvsp: ENSP00000461215.1:p.Asn105Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*228A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.212A>T
  hgvsp: ENSP00000461396.1:p.Asn71Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.212A>T
  hgvsp: ENSP00000460721.1:p.Asn71Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.86A>T
  hgvsp: ENSP00000343901.4:p.Asn29Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.287A>T
  hgvsp: ENSP00000460213.1:p.Asn96Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.317A>T
  hgvsp: ENSP00000458553.1:p.Asn106Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.86A>T
  hgvsp: ENSP00000443099.1:p.Asn29Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.317A>T
  hgvsp: ENSP00000408958.2:p.Asn106Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.86A>T
  hgvsp: ENSP00000459003.1:p.Asn29Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.86A>T
  hgvsp: ENSP00000441242.1:p.Asn29Ile
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*46A>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-988A>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn106Ile
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-52990124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990124
    reference: chr 17
allele count: 1
allele frequency: 8.40180806909647e-6
allele num: 119022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.215C>T
  hgvsp: ENSP00000461396.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.316C>T
  hgvsp: ENSP00000461215.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.89C>T
  hgvsp: ENSP00000461876.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.215C>T
  hgvsp: ENSP00000460721.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.89C>T
  hgvsp: ENSP00000443099.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.89C>T
  hgvsp: ENSP00000459003.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.290C>T
  hgvsp: ENSP00000460213.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.89C>T
  hgvsp: ENSP00000343901.4:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.320C>T
  hgvsp: ENSP00000458553.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.320C>T
  hgvsp: ENSP00000408958.2:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.320C>T
  hgvsp: ENSP00000458918.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.320C>T
  hgvsp: ENSP00000460823.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.89C>T
  hgvsp: ENSP00000441242.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.299C>T
  hgvsp: ENSP00000461284.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-985C>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro107Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-52990140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990140
    reference: chr 17
allele count: 16
allele frequency: 1.356898130872825e-4
allele num: 117916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.336A>G
  hgvsp: ENST00000445275.2:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.306A>G
  hgvsp: ENST00000575909.1:c.306A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.105A>G
  hgvsp: ENST00000540336.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.231A>G
  hgvsp: ENST00000572405.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.231A>G
  hgvsp: ENST00000573607.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.105A>G
  hgvsp: ENST00000576932.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-969A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.105A>G
  hgvsp: ENST00000536554.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*65A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.336A>G
  hgvsp: ENST00000575882.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.105A>G
  hgvsp: ENST00000572298.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.315A>G
  hgvsp: ENST00000572158.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*247A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.332A>G
  hgvsp: ENST00000570499.1:c.332A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.336A>G
  hgvsp: ENST00000575333.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.105A>G
  hgvsp: ENST00000348161.4:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.336A>G
  hgvsp: ENST00000570371.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*65A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Pro112Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-52990171-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990171
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990170
    reference: chr 17
allele count: 1
allele frequency: 8.908368521388993e-6
allele num: 112254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.369delT
  hgvsp: ENSP00000458918.1:p.Lys124ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.138delT
  hgvsp: ENSP00000441242.1:p.Lys47ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.339delT
  hgvsp: ENSP00000460213.1:p.Lys114ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.264delT
  hgvsp: ENSP00000461396.1:p.Lys89ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.138delT
  hgvsp: ENSP00000343901.4:p.Lys47ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.138delT
  hgvsp: ENSP00000461876.1:p.Lys47ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.138delT
  hgvsp: ENSP00000443099.1:p.Lys47ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.369delT
  hgvsp: ENSP00000408958.2:p.Lys124ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.138delT
  hgvsp: ENSP00000459003.1:p.Lys47ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.264delT
  hgvsp: ENSP00000460721.1:p.Lys89ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.348delT
  hgvsp: ENSP00000461284.1:p.Lys117ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.369delT
  hgvsp: ENSP00000458553.1:p.Lys124ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*98delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.365delT
  hgvsp: ENSP00000461215.1:p.Lys123ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.369delT
  hgvsp: ENSP00000460823.1:p.Lys124ArgfsTer13
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*98delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*280delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-936delT
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys124ArgfsTer13
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: AT
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-52990173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990173
    reference: chr 17
allele count: 1
allele frequency: 8.937828465196096e-6
allele num: 111884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*280T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.369T>C
  hgvsp: ENST00000575333.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.138T>C
  hgvsp: ENST00000536554.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.365T>C
  hgvsp: ENST00000570499.1:c.365T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.339T>C
  hgvsp: ENST00000575909.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.138T>C
  hgvsp: ENST00000348161.4:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.264T>C
  hgvsp: ENST00000573607.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.369T>C
  hgvsp: ENST00000570371.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.369T>C
  hgvsp: ENST00000445275.2:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.138T>C
  hgvsp: ENST00000576932.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-936T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.348T>C
  hgvsp: ENST00000572158.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.138T>C
  hgvsp: ENST00000540336.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.264T>C
  hgvsp: ENST00000572405.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.138T>C
  hgvsp: ENST00000572298.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.369T>C
  hgvsp: ENST00000575882.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile123Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

17-52990188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990188
    reference: chr 17
allele count: 18
allele frequency: 1.65080063830958e-4
allele num: 109038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-921G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+12G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+12G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-52990190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990190
    reference: chr 17
allele count: 92
allele frequency: 8.454794419835683e-4
allele num: 108814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-919A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+14A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+14A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-52990193-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990193
    reference: chr 17
allele count: 1
allele frequency: 9.263891204861689e-6
allele num: 107946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-916C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+17C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+17C>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-52990204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990204
    reference: chr 17
allele count: 1
allele frequency: 9.46969696969697e-6
allele num: 105600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-905G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+28G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+28G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21377
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-52990220-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990220
    reference: chr 17
allele count: 2
allele frequency: 1.963633507442171e-5
allele num: 101852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-889T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+44T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+44T>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

17-52990225-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990224
    reference: chr 17
allele count: 1
allele frequency: 9.956192751891677e-6
allele num: 100440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-881delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+52delT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+52delT
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: AT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-52990228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52990228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52990228
    reference: chr 17
allele count: 1
allele frequency: 1.007556675062972e-5
allele num: 99250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.368+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.267+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*101+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.141+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.141+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.141+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.267+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.372+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.141+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.342+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.351+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-881T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.372+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*283+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*101+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.372+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.141+52T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.372+52T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-52991059-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991059
    reference: chr 17
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-50G>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-50G>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

17-52991060-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991060
    reference: chr 17
allele count: 19
allele frequency: 1.575456053067993e-4
allele num: 120600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-49G>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-49G>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-52991069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991069
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991069
    reference: chr 17
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-40C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-40C>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-52991071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991071
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991071
    reference: chr 17
allele count: 25
allele frequency: 2.069296604698131e-4
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-38G>A
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-38G>A
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS

17-52991080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991080
    reference: chr 17
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-29C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-29C>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-52991085-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991084
    reference: chr 17
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-23delC
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-23delC
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: AC
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-52991093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991093
    reference: chr 17
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-16C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-16C>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

17-52991093-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991091
    reference: chr 17
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-15_369-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-15_352-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-15_343-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-15_373-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-15_142-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-15_142-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-15_*102-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-15_212-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-15_373-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-15_*102-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-15_142-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-15_373-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-15_268-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-15_142-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-15_142-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-15_*284-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-15_373-14delAT
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-15_268-14delAT
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: CAT
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-52991098-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991098
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-11C>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-11C>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-52991098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991098
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-11C>T
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-11C>T
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

17-52991099-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991099
    reference: chr 17
allele count: 4
allele frequency: 3.297554863069035e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-10T>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-10T>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-52991102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991102
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-7A>G
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-7A>G
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.373-7A>G
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-52991104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52991104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 52991104
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460721
  ensembl transcript: ENST00000572405
  gene symbol: TOM1L1
  hgvsc: ENST00000572405.1:c.268-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460565
  ensembl transcript: ENST00000572360
  gene symbol: TOM1L1
  hgvsc: ENST00000572360.1:c.*102-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461215
  ensembl transcript: ENST00000570499
  gene symbol: TOM1L1
  hgvsc: ENST00000570499.1:c.369-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458918
  ensembl transcript: ENST00000575333
  gene symbol: TOM1L1
  hgvsc: ENST00000575333.1:c.373-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460213
  ensembl transcript: ENST00000575909
  gene symbol: TOM1L1
  hgvsc: ENST00000575909.1:c.343-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461876
  ensembl transcript: ENST00000576932
  gene symbol: TOM1L1
  hgvsc: ENST00000576932.1:c.142-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000408958
  ensembl transcript: ENST00000445275
  gene symbol: TOM1L1
  hgvsc: ENST00000445275.2:c.373-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000441242
  ensembl transcript: ENST00000540336
  gene symbol: TOM1L1
  hgvsc: ENST00000540336.1:c.142-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458809
  ensembl transcript: ENST00000572576
  gene symbol: TOM1L1
  hgvsc: ENST00000572576.1:c.212-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000343901
  ensembl transcript: ENST00000348161
  gene symbol: TOM1L1
  hgvsc: ENST00000348161.4:c.142-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000443099
  ensembl transcript: ENST00000536554
  gene symbol: TOM1L1
  hgvsc: ENST00000536554.1:c.142-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461284
  ensembl transcript: ENST00000572158
  gene symbol: TOM1L1
  hgvsc: ENST00000572158.1:c.352-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458219
  ensembl transcript: ENST00000571319
  gene symbol: TOM1L1
  hgvsc: ENST00000571319.1:c.*102-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000460823
  ensembl transcript: ENST00000575882
  gene symbol: TOM1L1
  hgvsc: ENST00000575882.1:c.373-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000458553
  ensembl transcript: ENST00000570371
  gene symbol: TOM1L1
  hgvsc: ENST00000570371.1:c.373-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459079
  ensembl transcript: ENST00000570965
  gene symbol: TOM1L1
  hgvsc: ENST00000570965.1:c.*284-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000459003
  ensembl transcript: ENST00000572298
  gene symbol: TOM1L1
  hgvsc: ENST00000572298.1:c.142-5T>C
  variant of: http://identifiers.org/hgnc/11983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141198
  ensembl protein: ENSP00000461396
  ensembl transcript: ENST00000573607
  gene symbol: TOM1L1
  hgvsc: ENST00000573607.1:c.268-5T>C
  variant of: http://identifiers.org/hgnc/11983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.373-5T>C
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 154
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15703
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1219
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5180
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8031
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21579
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.610259122157589e-5
allele num: 15128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

DP
type: SiteQuality
SIO_000300: 1.432321e6

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

QD
type: SiteQuality
SIO_000300: 1.907e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

GenotypeDepth
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5703
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 458
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5193
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8044
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21553
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15734
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36309
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663284654535777e-5
allele num: 60122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.003e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

FS
type: SiteQuality
SIO_000300: 1.3995e1

VQSLOD
type: SiteQuality
SIO_000300: -4.088e-1

QD
type: SiteQuality
SIO_000300: 8.66e0

DP
type: SiteQuality
SIO_000300: 1.431731e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeDepth
all individuals: 5873
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9567
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20446
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1424
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14718
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688618709895306e-5
allele num: 59220
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.693e0

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

QD
type: SiteQuality
SIO_000300: 8.85e0

DP
type: SiteQuality
SIO_000300: 1.394774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeDepth
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16044
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15811
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4166
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2612
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.25e1
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South Asian
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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VQSLOD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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VQSLOD
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ClippingRankSum
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DP
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MQ
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FS
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MQRankSum
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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FS
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DP
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European (Finnish)
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East Asian
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African
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MQ
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African
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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African
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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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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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East Asian
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South Asian
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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European (Finnish)
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FS
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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Latino
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African
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South Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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MQRankSum
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FS
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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MQRankSum
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DP
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QD
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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QD
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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DP
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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BaseQRankSum
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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African
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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MQ
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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African
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East Asian
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 65250
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Latino
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East Asian
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African
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Other
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Other
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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MQ
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QD
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FS
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MQRankSum
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele frequency: 9.11410864017499e-5
allele num: 65832
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Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 65772
num of homozygotes: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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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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allele frequency: 1.220963951039345e-4
allele num: 65522
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
num of homozygotes: 0

Other
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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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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
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

ClippingRankSum
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SIO_000300: -2.569e0

MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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SIO_000300: 1.209e1

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

Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.059039461609055e-5
allele num: 65380
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African
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European (Finnish)
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East Asian
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.855287569573284e-4
allele num: 64680
num of homozygotes: 0

South Asian
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African
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European (Finnish)
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Other
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Latino
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allele frequency: 2.631578947368421e-4
allele num: 11400
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East Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 13644
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 60152
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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South Asian
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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DP
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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QD
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FS
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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African
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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African
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European (Finnish)
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Latino
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FS
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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DP
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.202643171806168e-3
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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FS
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QD
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ClippingRankSum
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SIO_000300: 1.9e-1

MQ
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SIO_000300: 5.903e1

ReadPosRankSum
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SIO_000300: -2.99e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele 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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African
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allele frequency: 9.75800156128025e-5
allele num: 10248
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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QD
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DP
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FS
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 4.5e-3

ReadPosRankSum
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SIO_000300: -4.43e-1

BaseQRankSum
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SIO_000300: -6.11e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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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: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 3
allele frequency: 4.567600487210718e-4
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.007790176557283e-4
allele num: 66494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

QD
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BaseQRankSum
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MQ
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SIO_000300: 5.845e1

InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 1.904955e6

ReadPosRankSum
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SIO_000300: 2.14e-1

FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6608
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66578
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South Asian
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num of homozygotes: 0

Other
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East Asian
type: Population
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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VQSLOD
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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European (Non-Finnish)
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Latino
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allele num: 11576
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South Asian
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DP
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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Other
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VQSLOD
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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MQ
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DP
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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Latino
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East Asian
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African
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European (Non-Finnish)
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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